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Your Practice & Hemophilia

Dec 21 | 1:30 PM

In India, hemophilia goes undiagnosed because of a lack of awareness and poor public infrastructure for detection. Roche, a global leader in the pharmaceutical industry, will take you through the broad classification of the condition, its clinical presentations, and the coagulation cascade underlying the process of clotting. Additionally, the session aims to cover the clinical interpretation of PT, aPTT, and TT and provide a detailed overview of Hemophilia A, from prevention to treatment. Join us live and exclusive on Medflix for this fascinating session!

[Music] uh good evening everyone and uh i'm dr naveda and i welcome you all on behalf of uh netflix uh thanks to this uh sponsorship from raj netflix brings to you a session on hemophilia a high cost low volume disease and for this talk we have with us dr naresh gupta he's the advisor for hemophilia with the delhi and ct government and the medical consultant with maulana azad medical college and loknayak hospital delhi his prime interests lie in medical education environmental health and public awareness and most importantly in the advocacy of hemophilia programs for the welfare of the hemophilia community in india along with dr gupta we have the second speaker for this session for this evening is dr sunita agarwal she's the director professor of department of medicine with mamc delhi along with being the hrd dr agarwal leads the hemophilia daycare center and the hematology clinic she has also won many fellowships and awards along with that she's published in many peer-reviewed journals as well uh so like y'all can see uh this just goes to show that both our speakers for this evening have a wealth of knowledge to share with us as they explore the basics of hemophilia his clinical presentation uh the latest treatment protocols and obviously the challenges faced uh by three by the treating physicians and much more i hand over the stage to dr naresh gupta to set the context for this evening thank you thank you thank you so much for this kind introduction and a very good evening to all the participants i really welcome all young young ladies and gentlemen the colleagues of my profession and the allied profession i hope at the end of the session you go back and rest and you feel happy about it and feel free as you are told to give your comments or chat in the chat box you can put out your questions also i would like to say that this session has been done on disease which is often called the orphan disease because the numbers are so small but when you will hear us you will realize the kind of explosion that has come into the research in hemophilia and the practicing of hemophilia is unparalleled and because it's a little a complex subject in the sense that it is one disease which has evolved as a speciality we have decided that this would be done under four um four for four lectures under two sessions so we are having two sessions today and we'll follow it up with another two two lectures in another second session so two sessions four lectures the two lectures today one is introduction that i'm going to give you and second is the basics which professor sunita would be interacting with you and the reason why we wanted this introduction to come up is so that you can align i'm sure some of you are physicians some of you are surgeons some of you are pediatricians some of you are neonatologists some are obstetrician gynecologists some are dermatologists some are sports persons lab persons genetics whatever you take it physiotherapy psychosocial anything everybody is going to encounter anything like this so it was very important that we kind of take you on board and we come to you all come to the same level before we open the next sessions the next session today will be on basics and then you'll have the next two lectures in the next session on diagnostics and treatment so don't bother too much about the diagnostics and treatment in this one just try to feel free and easy with your lectures so i'm sure you recognize some of these pictures while you are making up your mind or you have made up your mind one is the male pattern baldness color blindness right on top right on top and lower down on the left you see this small child trying to get up and it's very characteristic of duchenne's musculature and on the right lower you have the royal family with a family tree being shown what do they have in common they are all x-linked diseases that means they get transmitted through the x chromosome and you as no are there two in the women and one in man so if it gets affected in man even the so-called recessive x-linked disease will manifest very severely the male pattern blindness is not severe color blindness is not severe muscular dystroin additions muscular dystrophy is severe but thankfully they are also catching up with the treatment and now you have the gene available for its treatment the one that we are going to talk about in our subsequent lectures would be the right lower down so-called the royal disease or the hemophilia hemophilia from the deficiency of a clotting protein if it is deficiency of protein 8 it is hemophilia a if it is efficiency of protein factor 9 then it is hemophilia b clinically they behave the same way they present the same way except that diagnosis is required to be exact whether it is a or b because the treatment would be replacing the chlorine factor a dna and nine in b hemophilia is the second most common of the inhibited bleeding disorders and it has been there for very very long times in fact five centuries is a history and it can cause all kind of problems but there is one thing very interesting about hemophilia hemophilia the incidence because it's a genetic genetic disease so children would get born out with the hemophilia and it is said to be about one in ten thousand balls for hemophilia a and one in fifty thousand part four b the incidence of this is same across the globe it is across the race across the religion across the countries it is just same and the severe ones are so severe that they would not be living in the sense without treatment they would be disabled in the first decade or two and then they will not likely make it up to third or fourth decade if it is a severe one never if it is so how do they sustain themselves now that is very interesting that one has to remember that out of 100 cases that we have we have about 3 300 cases in our center immunoplay center that look like hospital one third of them 1100 do not have a family history and that is because there is a new mutation that is coming and that trans translates into one third coming out as new cases and which is something that you would realize soon when i show you the next slide the next slide shows a man called jbs harley who was a director of statistical institute in delhi in calcutta he came from uk and he came before before independence and he came up with this statistical reason why some of these genetic disorders sustain and maintain a gene frequency which translates into 30 percent coming out as new new new cases the hemophilia a is the majority one that is what you see in about 85 percent and b is very uncommon it is about 30 this is what you see usually in bleed but this bleed that you are seeing here is not a very common one this is something i have brought in to say that this could look like an injury it could come to emergency in fact there was injury here and it is the injury that means trauma induced bleeding and you can see there is this echemosis around the eyes one's eyes is involved with bleeding if both are there then you can see it a concise time and they can bleed interruptingly so the bleeding can come because of trauma and bleeding can come without trauma that is very important in fact severe cases would have their bleeding without trauma most of the bleeds most common bleeds are into the muscles and joints and between them joints comprise 80 percent of the bleeds whereas muscles are only about 15 percent and the rest could be very severe when they bleed into muscles they can go like a trauma to anyone in fact i remember we had this young boy who was into college now and he used to play football soccer and he injured his knee at the cop and he went to this doctor and they said you have injured your knee and that is why it is like this you take rest and some energy ids and it will be all right second time when he developed it the person the knee joint was aspirated and some ultrasound also was done and blood came out and after that only on the third bleed he was diagnosed to be having hemophilia so the muscles and these joints can become difficult sometimes there was another gentleman from bihar who had been having this problem for five years but his bleeding was leading to chronic arthropathy which was being treated as rheumatoid arthritis even without it once the muscles will get a bleed the neurovascular compression would be there and all kind of syndromes that you can see this would take them to neurologist because of their you know claw hand or weakness or foot drop or very many things a very interesting feature that comes out in these diseases is when the blood comes out into the joints it becomes damaging to the joints unlike any other traumatic bleed and it leads to a proliferation of the synovium and other soft tissue and leads to arthropathy but when is outside the joint into the muscles it can give rise to a it can give rise to a pseudo tumor formation which looks like malignancy but it is soft tumor and it grows into huge amounts so these are the nerves that we have seen affected in a big way and if you see some of these bleeds apart from this so the joints and muscles some can be very serious like this was uh ileus was and the intracranial and intrathoracic remember they can go to another specialist also it is common to see anemia in these patients even though the bleeds most of the time is internal but it can be external also hematuria is also to be remembered as one of the manifestations but in our practice in north india we see that renal calculus disease is common and that should be ruled out tuberculosis hydrogen i said hydrocupilous because small babies especially neonates or the infants would come with these intracranial blades and the young children also would have intracranial bleed which can complicate into a hierarchy fellas now with these kind of disabilities in about two in 2011-12 we undertook a study in six developing countries india south africa morocco algeria and what we found was 84 percent had disability so these persons are not getting diagnosed that is a big problem and they go around with their disability which is neuromuscular joint or other systems and undiagnosed that is why it became very very important that we do something about it i told you about if bleeding is there into the joint and the bleeding will stop because bleeding will create a pressure and the breathing would stop even if they don't get treatment but even after the bleeding stops the damage goes on for days and weeks and months and years together and every minute that is it gets delayed it is dangerous and this graph i am showing you because we used to have this young man coming from nagaland to take treatment at our center so we had this motto that it should be one country one treatment because you have to give treatment but if it's going to be given 24 hours later it would serve no purpose so this factor 8 which is responsible for the majority of hemophilia it's a very colorful representation and you can see the introns exons on the x chromosome there is very fascinating you know when we think of clotting factors we think of clotting factors in terms of liver and this is one factor which is not with the liver it is elsewhere maybe in the renal tissues juxtaglomerular apparatus or some of the sinusoidal cells of liver we still are not very clear but this is very fascinating factor so when it comes to the to understanding then you must remember there is intrinsic pathway extrinsic pathway and you remember the cardiologist would remember other persons who use anticoagulants would remember then in extrinsic pathway is something that you use when you are giving extrinsic oral anticoagulants let's say the coumarins so where you do the pt whereas intrinsic is the one that gets affected in hemophilia and these are the factors that are listed and what you will find is if you have an elevated aptt and a normal pt then you should think of hemophilia if it is elevated aptt and elevated pt also then it could be liver disease dic snake bite poisoning or like that so when you have elevated aptt just think that hemophilia could be one of the common ones after the diagnosis the treatment has been revolutionary in our in our system so once the factors the initially it was a replacement with fresh frozen plasma and cryo precipitates which contain factor eight later on the factors were purified and given in the form of these injections and this became the rule about half a century earlier 1980s and around that time but it led to a very big problem this was the time when hiv was coming up 1980s and there was a big problem and there is a whole lot of these hemophilia community that got afflicted with hiv and of course hepatitis also because blood was not tested that time so whatever plasma you would import or give from your side would give rise to this and this was a recent movie outside the white house that lead to it so two things emerged from it one is we must save them at least from hepatitis b by giving the vaccination it's a very important vaccination healthcare worker should take it all hemophilia patients should take it and they should take some other toxins also the other thing that emerged was let us do away with the plasma and you would see in this slide that over a period of time these factors in 1990s you would see recombinant factors came in after they had been sequenced and these days we use only recombinant products plotting factor eight and plotting factor nine but then factor eight for example has got a half life of about 12 hours so you eight to twelve hours so you give it uh every two twice in a day so that became very inconvenient and more inconvenient because like diabetes that you treat where the deficiencies of insulin here you have to give replacement you can't give replacement every day or something like that so extended half-life products came in then the collateral products came in like factor 7 can be used for it tissue pathway factor inhibitor tfpi could be used for it protein cs could be used for it rna interference could be used for it gene therapy could be used for it and in fact there are these mimetics mathematics are where you bypass the factor 8 and start using it and of course gene therapy has been going on for a long time and the whole product sequence that you will see in next session would be such huge that we have a whole range of products which could be recombinant and long-acting and innovative and then there is a replacement and of course there are other supports in there one very innovative product that has come in is uh emission map which is a bi-specific antibody so if you have a requirement for factor eight instead of that it bites two activated factor nine and ten on this side and it bypasses this it is called it's available as m libra and it is another revolutionary so in short health equity must be assured with so much availability of these factors that it is mind-boggling but we still have issues with the with this so apart from the drug treatment we have also realized like in any other disease we must go in for patient empowerment patient-centered approach and patient satisfaction that we have tried doing in this empowerment we do because the factor has to be given until recently into the veins we have the small children who can be tracked trained into self-infusion then we brought in some more empowerment by using yoga to improve their musculoskeletal health and mental health psychosocial counseling is very important and psychologically issues are so many different so so different from country to country that one has to take them seriously yogg sutra i told you is something that we have done as a study also where the benefits are enormous so if you look at it it is not only the dozen specialists that are taking care of this disease but this disease could go to several dozen specialists any one of you and you must be aware of it the issue also comes because the health is a state subject then there is a need for capacity building and advocacy in your neighborhood if you are into that domain of public health and we had to do this which we did by training into jammu kashmir haryana everywhere madhya pradesh andaman nicobar and towards this aim of one country one treatment and this has really made the life much easier here you see charles bombardier a patient with hemophilia who is climbing all the top peaks he has climbed seven peaks including the mountain test so i'll end by saying that hemophilia we want to bring to you so that you can imbibe some lessons from this and once we can manage hemophilia so well as a disease there is no reason why any other disease should not become an excuse to manage manage it thank you so much for patient patient listening now we'll have uh dr sunita coming in and telling you something very interesting about the basics thank you sir for giving me this opportunity you have uh already briefed what is hemophilia what uh what how it is transmitted and all this i will give just a little bit detail about it and how it is managed and what are the challenges we are facing uh during the diagnosis as well as during the management so this um as we know my topic will be the just overview of the hemophilia how it is diagnosed what is the incidence what is the prevalence and what is the treatment available and what are the long term impact and what are the challenges we are facing it is a little bit lengthy dog but i will make it easy for you what is basically hemophilia we all know hemophilia is the basically bleeding disorder which is due to the deficiency of factor a that is the hemophilia a and the factor nine that is the hemophilia b ultimately it leads to the whenever there is in deficiency of factor eight and factor nine then the fifteen cloth it is not uh basically uh solid and the patient present with the bleeding disorder then how does it happen oledistr has summarized that it is a genetic disorder basically excellent recessive disorder what does it mean basically actually recessive disorder means males usually have x and y chromosomes and females has two x chromosomes if one of the x is affected then it will leads to disease in all the males but if one of the x is affected in females then it lead to carrier state in the female means females are little bit lefty in this disease if they are usually carriers they usually don't present with the symptoms of these disease however male usually suffer they are suffered for this disease they present with the bleeding manifestation this fear and if this is a female is caries marries a normal man then there are chances of development of the hemophilia in the future generation we have already seen that the there are uh there are basically affected boy will be the 25 and my daughter will be the carrier but if the female is normal or if he marries the hemophilia patient then there is a chances of developing only two carrier daughter but no male child will be affected because the mother is not affected that is the mean and already how the this disease lead to the high mortality in the early early childhood before uh that if the treatment is not given properly then mutation means in our center already we have seen okay out of three four nine five we have registered patient and some patients don't have any clinic of the family history means the family history basically we have to ask in the on the maternal side um not these are the maternal uncles will be oppressing then you have to take history very carefully in this disease but we have seen initially the last week i have seen two patients one one is the seven year old and one is the four year old and uh they don't have any female history then how does it transmit already it is due to the mutation the new mutation occurring and the factor eight and the factor 9 gene which lead ultimately to hemophilia disease in that family which is not affected previously incidence it is the one into 5 000 male birth in hemophilia a and one into the twelve thousand to thirteen thousand males in the hemophilia b but it is a constant throughout the globe it is not affected according to race according to religion according to country it is throughout the same all over the globe so if i say this is the incidence there should be the around 4 lakh or 4 lakh hemophilia throughout the globe but it is not like that number of the hemophilic patients are increasing their incidence is the same but prevalence is increasing because of the improved diagnosis and the improved treatment in this patient and increased awareness not due to the incidence is increasing about the disease and out of this disease mostly are the hemophilia a 80 to 85 percent and even if we say that if india we have uh according to the population we should have more than one lakh hemophilic patients in our country but till then we have detected only around 20 000 because it is the due to the lack of awareness not only at the community level because at the level of physicians primary physician working in the phds of our country they are not aware about this disease if still they are aware they don't know how to refer the patient and where to refer the patient so this is the main problem of this uh we are facing in our center already it is a rare disease if the awareness is good we can diagnose more and more patients and we can treat more and more patients then how we to make the diagnosis already we have discussed the patient present with the bleeding manifestation may be into the it is depend upon the uh it is depend upon the weather how much factor is present in our body it is a basically mild moderate and the severe in the severe form of the hemophilia factor eight or nine level it is usually less than one percent so in this less than one percent patient usually present with the spontaneous bleed means there is no history of trauma so i was already told whatever the symptoms of the hemophilia was there it depends on the factor level that is the factor level if it is less than one percent then it is categorized as the severed hemophilia then the patient present with the musculoskeletal blade without any history of trauma without any history of accident just they have the spontaneous weight but if they have the question more than one percent then it comes into the category of the moderate one to five percent and mild more than five to five percent then they need history of either trauma maybe mild trauma or in the mild roma then be present with the bleeding and in the mild hemophilic sometimes they are diagnosed into the adulthood whenever they had an accident whenever they have surgeries like that otherwise they may be undiagnosed most of the clinical manifestation in this hemophilia is the bleeding into the joint and the muscle 70 to 80 percent usually when the baby starts scrolling then there will be the bleeding into the wrist joint bleeding into the ankle joint leading into the knee joint family doesn't know what is happening over there if they go to the clinician if there is no history of trauma if there is any bleeding then they should suspect it is in hemophilia then they have the repeated episodes of the bleeding into the joints uh we're leading into the joint in the severe machine may be six to eight times per year then diagnosis is more and more uh confirmed if the physician is aware about it and sometimes if the these uh the patients can present with the life threatening with what are these life threatening beings bleeding into the brain presenting as the intracranial bleed bleeding into the chest bleeding into the abdomen present at the hematomysis hemopsis and sometimes bleeding into the retropharyngeal species and which lead to the respiratory obstruction so it is not like that they just present with the musculoskeletal blade they will be disabled we can just ignore it no it can be the life threatening so we have to save the life of this patient then how does it lead to the arthropathy whenever there is a bleed into the joints then there will be the some in inflammation around the synovium some damage to the cartilage and even when the bleeding subsides into these joints there are some micro bleeds going on ultimately damaging the synovium and the cartilage leading to the hypertrophy of the synovium and the cartilage and ultimately it leads to the permanent damage into the joint lead to atrophy these are the some clinical pictures see how these bleedings repeated bleeding can lead to uh deformities into the musculoskeletal issue these are the basically the pseudotumors we have already discussed about it because continuous that is the bleeding into the joint can lead to can lead to this type of manifestation then what will happen with the con what will happen if this the what are the basically we have say these are the basically the impact of basically some these are the short-term impaired survive i would say these are the disability due to the hemophilia per se due to disease but there are some other factors which contribute to which contribute or more interesting in this disease with the treatment because it is usually treated with initially with the ff or the blood transfusion now then later on with the plasma derived or the recombinant factors with the event of the recombinant or highly purified factors this incidence of transmission from the blood products to the hemophilia patients that is the transmission of hiv hbs hepatitis c it is little bit less and it is significantly less as compared to the pre in the 1980s and the 1970s now it is usually less than 0.22.3 percent and other problem we are facing during the treatment of these patients like the we are found in the inhibitors machine what are these inhibitors whenever you are giving treatment like the you are infusing chapter 8 in a case of hemophilia age you are giving infusion of factor 9 in the hemophilia b then the body treats them themselves as a foreign protein then they make antibody against it these antibodies neutralize the whatever vr factor we are giving and it makes the infection so the patient presented with the bleeding or ultimately leads to the for me these which is more common in the more common in the hemophilia a as compared to hemophilia b in a basically 25 to 30 percent uh elevators are found in the patients of in the severe severe hemophilia disease and usually they are usually within the 50 days of the exposure whenever the merely 50 infusion days whenever you if you do the inhibitor they may be present later on incidence decreases with the if you are giving the more an infusion and there the multiple other treatment are available if these inhibitors are present then there are the these are the challenges again we are discussed later when when what is the long-term impact i would say what are the long-term impacts of the hemophilia a wife is so important it is in high cost low volume disease then why should we pay attention to these individuals then these are the because it affects the long-term uh side effects and the long-term disability in these patients mainly the psychosocial impacts and i would say from birth to age five what would we suffer even won't understand what i am suffering from he will not be able to balance he needs the constant protection from their parents and what will enter into the early childhood we have the difficulty in the identity tissue because he would say why i am not able to play what i what happens if i play why my joints are swollen these are the little bit very innocent questions we are listening uh from our patients then they enter into the adolescence phase then it is a of course then they are very conscious about the body images they don't know how to identify in the peer group they are basically separate from their peer group because they are the lack of awareness even the friends teachers they have the issues in their school because they are considered very special they are not allowed to play with their peer group they are allowed to make them sit separately even though some schools are not giving admissions to these type of in this disease because they are afraid something will happen in their school when they enter into the adolescence of course there will be the carrier issue there are so many carriers uh with which they cannot uh achieve dude like the we have sega sports place they cannot be until unless they have on the prophylactic therapy or the some good therapy then they are they have so much uh difficulty in the relationship relationship when they enter into the adult at least there's the employment issues workplace issues and now with the improved treatment we are seeing the older a older age individual which is not possible in the basically early 20 19 so it is now we are seeing a lot of patients without presenting with the comorbidities now that even during the small surgery like the cataract they need the factor infusion therapy so they are the multiple uh psychosocial issues they are facing since infancy since their birth since the old age which is the normal population is not facing so these are the not only the treatment with the factors matter it is the psychosocial issues emotional support which also matters in these patients then we are discussing already discussing what is the hemophilia scenario this is the basically hemophilia scenario in our country one out of three patients living with hemophilia discontinued education due to the load of psychosocial issues half of the patient living with hemophilia is 18 years or more are unemployed because either they are not skilled or employer doesn't want to give joke to these individuals and till they uh many of the patients living with hemophilia they are difficult to even get up from the chair or climb their means they are suffering from so much hemophilia they are not able to move themselves that this crippling disability and the poor quality of the life it causes the post burden over country this is the one study published in somewhere around 2007 in which they show that 94 of the hemophilia patients are disabled and around the 75 percent of the patient living with hemophilia they die before the age of 30 years that is the reproductive age group they can't go beyond that old days but now the since 2007 when the high court orders came to treat these type of individuals we are seeing more and more patients going to the old days we have many patients now in our center we are now doctors they are teachers they are they are dr basically they are the mbbs student and they are even in the 50 years of the age i have admitted one patient yesterday who presented with the swasti metro mark and now he is 50 years we have already discussed why it is like that because it is a late physicians they are not aware even the community is not aware what are they suffering from late identification of the bleed even they make the diagnosis they don't know how to treat the patient even they don't know the adequate dosing and how to administer the doses so ultimately all these these due to the low awareness which ultimately lead to disability in this patient this is the again graph showing the uh how these uh basically even the treatment we are give offering to these patients we are giving on their own demand therapy on demand therapy means whenever there isn't bleed we are giving them therapy but it is not an ultimate answer because in this already micro bleeds are there and the patients have to travel to the hemophilia center to get the treatment and ultimately it can reduce the pain but it cannot prevent the disability in these patients so what is this prophylaxis is infusion of factor 8 and factor 9 at the regular interval so that these blades don't happen this would be the ultimately target for our patients so the the basically if we have given these uh target that ultimately we can improve the quality of the life of these patients by giving this prophylactic therapy that is the regular infusion of factor a and the factor night at the regular interval and there should be no bleed into the joint and ultimate and of course it will also prevent the life threatening bleed so to improve the quality of the life we have to see we have to give the regular prophylaxis uh regular replacement therapy then not only these patients are suffering from the basically psychosocialism but about their family in the family they have to basically whenever you see your child in pain you are always suffering from pain and it is it is a high cause disease however we are our government is very kind enough to be free factor to the all the patient but still it leads to the financial burden to the family because they have to come to the center they have to uh basically uh make them absent from their workplace their business is lost so ultimately it lead to the financial burden and it ultimately the emotional stress financial burdens lead to the family into what to do they are just wondering what to do then not only the patient these families also need the counseling course with special counseling for this disease in india we have already discussed the prophylaxis is less than five percent then what what should we do approach in this patient keep free from pain and patient should be not be disabled due to this disease so that quality of the life is improved it can be only meaning only possible when you give when you give these patients regular replacement therapy regular replacement therapy and you teach the patient how to infuse the this replacement therapy at home however it is little bit difficult in our uh basically country but it is still we can think of that we can approach how and this uh doctor narrative already uh described it as a revolutionary drug because it is not the iv drug it is a subcutaneous drug it is just like insulin the patient can carry if they can carry at any time with them at any anywhere so they have to just basically we have to just teach them how to give the subcutaneous injection weekly doses may be bi-weekly doses and they will be the free from bleeding because it is given as a prophylactic therapy then this is the most revolutionary uh revolutionary basically revolutionary therapy in the treatment of the hemophilia and in the market is now is available and the soon it will change the whole scenario of the treatment of the hemophilia this is the other some difference we are saying what is the developing country and the developed country we have already discussed we are the little bit access to the prophylactic treatment lack of awareness lack of funds lack of psycho the lack of psychosocial counseling but i would say but i would say these are the some uh basically uh new rays of the hope for the hemophilia care in the india in india for the last decade we are getting the support and the funding from the government from the 2007 high court gave the order to treat this rare disorder then the under the guidance of dr niresh gupta hemophilia daycare center was established in the mullan medical college and then we are we are treating at least 3 400 patients in our center and we have dr nerita has already given training to so many pairs so many centers to start that uh to start the center so that the patient doesn't need to travel to get the factor and india has already transferred from the whole blood transfusion to the ffe through the cryo precipitate now we are giving the recombinant factor concentrate they are available so many states it is also listed in right of person with disability act so many rights are given to the patients the disability certificate and the issues to these patients so they are getting the jobs they are getting the employment hemophilia treatment center they are opening across the country to treat the patients many center have started the prophylaxis as well as the home therapy even we are center we are giving the prophylactic therapy to some uh designated to some patients and in this patient we cannot forget the role of hemophilia federation of india in the last slide i would say to fulfill the vision of world hemophilia federation that is the treatment for all we need awareness about disease access for the same factors we have to institute the prophylaxis whatever the therapy whether it is a recombinant or misused map and definitely home therapy it should be the focus area for all the concerned stakeholders to make the treatment accessible to all patients living with hemophilia in india thank you very much it was just an overview i didn't touch what are the treatment available what is the uh many how to do manage how to do infuse it was just the prevalence and the burden and what are the problems we are facing thank you very much huh thank you look sunita thank you that was you have tried covering in one session everything from the beginning to the end and i hope the audience would pick up whatever interests them there are some in the audience who would be interested in picking up the diagnostics yeah some who might be into the clinical aspect you know like we remember we don't see it so often in the other parts of the country but we see it circumcision is a given thing in so many societies and once they go undergo circumcision then they start bleeding the child starts bleeding and the blood does not come to stop and this in fact is one of the very early markers that in this child could be hemophilia and in fact 500 years back also it was done with that so you have tried covering everything and you have gone on to the treatment and the innovations that will probably have to be discussed in greater detail and from intervenors we have come to the subcutaneous route yes sir yes and while we are cheating it is also very fascinating for the audience to know that as our patients are living longer we are seeing problems that we never saw earlier earlier we used to see dental problems you know because they bleed dental bleeds and they can't eat because of the caries that comes from these dental bleeds but now they eat they live and we have persons who regularly come to us now for cataract surgeries which can be done so safely provided you are aware of it so a philologist has to be aware of it we also get these patients who have a bleeding problem they come with thrombosis they come with coronary artery disease heart attacks and all these things that are coming up in fact there was a very fascinating thing about these you know we are having covet these days so covet disease and covet vaccines over disease in particular would have these thrombotic complications how is it to be managed so this is something that is very very revolutionary and very very informative and i think anybody should try to understand the basics through these sessions which have been provided on netflix also our experience over these 15 years would show that wherever hemophilia setups have come up the maternal mortality has come down and that is because the commonest cause of maternal mortality is hemorrhage postpartum image and hemorrhage can be managed well only when you know about hemorrhage that means the lab setup if it is there would make your life easier and your your management more efficient in fact it is so important that we have been seeing patients with misdiagnosis wrong diagnosis delayed diagnosis and we also had one iit boy coming to us with gi bleed who went to gi surgeons and gastroenterologist and received 15 minutes of transfusion but eventually he was found to be hemophilic with no inhibitors and he responded like that so there are very very imaginative things that are coming up and if there are any questions we can take them up what medications to be avoided in hemophilia now that's a very very good question what medication to be avoided with hemophilia dr sunita sir basically in this medications which basically affects the platelet count because initially platelet is uh but whenever there is an injury platelet love is formed whatever the medication which hampers the platelet and the coagulation pathway which should be avoided like the ice cream like the fin we should avoid this type of medication even the patient should be advised they should not get any intramuscular injection and anticoagulants should be avoided in this patient so which medications are basically safe we can give the protein we can give the tremendous for the relief of pain but and the cochlear imputer even you can prescribe but you should not describe the spring propane like this in this session and the anticoagulant okay so that is very well said that no intramuscular injections and remember these days there is a tendency to take this aspirin or dichlorofenic or ibuprofen at the drop of a hat they have an anti-platelet effect and the antiplatelet effect would like last the life of the platelets which could be one week to 10 days and that will make them worse so painkillers there are different ones that you can do so she has said it very well and when there is a hot joint you know like there is a swollen joint or a muscle very often one things of fermentation and she has said rightly in our presentation also it should not be hot fermentation it should be ice fermentation because hot fermentation will give rise to more bleeding there and cause these problems at what stage of hemophilia do we use recombinant levels now recombinant therapy is just a test tube therapy that means it is something we are making it in the tube it's like if i take it simply these days of cobait so you have these mrna vaccines which are kind of tested vaccines you know it's the exact sequence and you make the exact product which is human sequence product product and incorporated as a covid sequence product and there are some covd vaccines which are the traditional inactivated vaccines like the we have the co-vaccine here in our country so if you look at the recombinant therapy the recombinant therapy is pure form of sequenced factor 8 or factor 9 produced in the industry the reason why they came up was because we had a huge problem with the blood products because they were giving rise to hemophilia the hepatitis b and hiv they are no longer a problem one because hepatitis b vaccination is very effective and we give it regularly to all of patients hiv there is no vaccine but both are screened very well but recombinant products gave us the tool that the infection would not be there and the second thing that it provided us was that you could modify these recombinant products to make them long-lasting so instead of being given every second third day you could give them every week or maybe 10 days as for this straightforward one-line answer at what stage of hemophilia do we use recombinant therapy ideally everybody should get it there is a small debate there is a small debate in medical science where it says that the initial 50 exposures which are critical for the development of antibodies which dr sunita was telling you are the inhibitors because they inhibit the regular factor a the initial 50 exposures may be the plasma derived are shared better though there is no there is a kind of you know tug of war so some places you would see that initially they might use plasma derived for first 650 exposures but then eventually and in most of the places right from the beginning they would switch over to recombinant products for every patient and the cost difference also is not much so there is also a question of what is prophylaxis regime in a case of hemophilia toxinita federation whatever the books are things it is the malmo protocol and the attribute protocol malmo protocol basically is in high dose that is the 25 to 40 units per kgb per dose in homophilia a it has to be given either twice or twice weekly and that is the other protocol that is the appreciate particle that is the intermediate dose that is the 15 to 30 iu per kg for those in hemophilia bay again twice thrice in a week and in the hemophilia beach twice in a week according to the their half-life but in uh now in the developing country it makes a very uh basically financial burden over uh the government to provide these high doses in the intermediate doses so in the china and in the basically some developing countries in even our india we have given we are basically giving low dose prophylaxis therapy in which we are giving 10 units per kg per week in both homophilia a and the hemophilia b we are calculating the some amount of the hemophilia factor eight and the factoring still remain it is more than one percent we are not converting the severe hemophilia into the normal individual we are converting them into the silver hemophilia into the mild hemophilia so that number of the chances of bleed are less and the life threatening bleeds are less so we are basically saving their life and that we are making the quality of the life better in these patients and the i would say in the even the slow dose prophylaxis we have gained the confidence of the patient and the patients are quite confident in their school in their workplace i have already around around 20 to 25 patients on the prophylaxis regime and they are very happy so we can try according to the factor 8 availability and the factor 9 availability how much you can afford you can either try high dose intermediate dose and the low dose it is you are up to the physician very well said very well said so the prophylaxis or what we call regular replacement remember in diabetes we don't call it insulin prophylaxis probilax is we use for a different connotation but somehow this thing has been persisting so regular replacement regime in the case of hemophilia as doctor describes has actually changed over a period of time and the change came in because severe hemophilia less than one percent clotting factor in blood if you could make it into mild which is more than five or even moderate which is one to five so two three four percent if you could bring then we knew that they don't bleed so much but now our uh you know our temptation has increased and we are not satisfied with one two three four five percent so we want to increase it further and that's because there are newer products coming in whether it is the hemisphere map or long acting factors or gene therapies which can take the factor level up to 18 20 percent 30 so the regime that is going to be followed would depend on which of the modalities of treatment you are choosing and the standard modalities that is available or used in india is the plus the clotting factors whether plasma derived or recombinant and she has described all those regimes in detail so there is a new question oh that's very interesting what is the role of decimal place in dr sunita so desmopressin basically it is only effective in the hebrew philia a because it releases the one wheel brain factor and the factorate from the endothelium so it won't be effective in uh hemophilia b i would say this there's some present we can uh use in the acute stages and basically in the mucosal bleed even though it is not effective in the joint because like the oral bleed i have sometimes patient present with the nasal bleed and the we can use this desmopressin otherwise that we cannot use in the hemophilia so very well said because desmopressin what it does whatever root you use you know factor eight and one equilibrium factor they hang on together and then the platelet is also blood blood also so from the from that uh area the decimal place in releases the factor eight and of course vwf also the only problem is if somebody has got a bleed that you saw those heavy joints or interchangeable bleed or swashblade this will not be able to manage because the amount of factor that is the least is small and number two over a period of couple of days this would get depleted so nothing more would be available so what is done is the role of desmopressin would be if you have a case of mild hemophilia not that they can't bleed they do bleed and they never received factor earlier clotting factors because if you give them clotting factors there is always some risk of inhibitor antibodies so if there are mild cases there you could tide over by giving them desmopressin but it cannot become it cannot go beyond few days and it cannot become a regular treatment in cases of severe or standard hemophilia can recurrent nose bleeds be a case of hemophilia of course it can be in case of hemophilia but that would be little too far-fetched as dr sunita was also telling you we tend to make the diagnosis of hemophilia when patients are young and in children the commonest cause of nose bleed would be no speaking from the little area it would start bleeding so do look for common things and rather than going for far-fetched real thing let me put it in another way if somebody has only a nasal bleed then i don't think of hemophilia as a first one but if somebody has nasal bleed joint bleed muscle blade i can think of it even then little syria bleed because of no speaking should always be there there is a very difficult question dr sunita fio diagnostic criteria or screening program at primary center level diagnostic criteria there is no clear diagnostic criteria and screening program yeah there's no you have to tell diagnosis the clinical history then you have to examine then the few tests you have to do we have already discussed in the clinical history patient present with the multiple patient present with the spontaneous group maybe it is into the basically muscle maybe neither blade may be hematuria then you ask always always about the family history if the family history in the maternal uncles are present then you can make the diagnosis more uh convincingly rather than you are saying you are not basically not having any bleeding disorder if your family history and the clinical examination goes in forever of basically bleeding hemophilia then you exam you go for the test in this test in the complete hemoglobin you will see maybe may or may not be you see the anemia but there will be no effect on the tlc count and the platelet count bleeding time would be absolutely normal but the closing time will be increased in these patients and when you go for the further testing that is the coagulation test coagulation parameter that is the pt and the pttk then the ap aptt will be increased because in this in these intrinsic pathways affected if you are the ptt is increased in your patient with the history of the bleeding manifestations with the family history go for factor eight and the factor nine assay if the factor eight is deficient then you make the diagnosis of hemophilia a if the factor nine is deficient you make the diagnosis of hemophilia b rather than the comp inhibitor level or it is the later later test it is not required at the time of screening at the time of screening you need only hemogram pttk then followed by uh definite factor acid so she this this sounds little complex and let me also add that the question was at primary center level and doing these tests at the primary center level is not possible in our own country we have just just couple of dozen labs where we can do this chlorine factor eight and nine essays and it is not possible everywhere so what do you do at primary health center level you would have to send the patient to district or to the tertiary or medical college where basic clotting factors tests can be done you can't even do clotting factors in more than a dozen labs maybe two dozen laps sorry two dozen laps so when you send them that is okay because once the diagnosis is made for a given patient the patient has the diagnosis for lifetime it can be treated at primary health center but diagnosis will not be there diagnosis criteria now whenever you're doing the test very simple thing you do pt aptt now pt inr everybody knows aptt few persons know but remember if you do these basic tests they are similar tests so anybody who can do pt can also do aptt and anybody who can do aptt can also do factor eight or nine level so when you are doing this test if only one of them pt and aptt if one of them is abnormal that means it is probably a hereditary defect of factorizing deficiency if both are deficient then it is not likely likely to be hemophilia so the diagnostic criteria would be elevated aptt which gets corrected with the normal plasma and the factor level eight or nine whichever one is deficient deficient we mean it would be less than 40 percent because these factors are 40 to 150 percent at a normal level and if they are deficient then you think of doing it that still would be a functional test and one can do what you see in you know similarly if i can take covet sequencing you can do a sequencing and you can find out what kind of mutation is there there are several thousand mutations that are there sitting screening program she said very well but let me tell you that some areas and districts in our country have adopted the asha workers to do the screening program what do they do if there's a family history and there is a first bleed that comes up then you don't say ah there are no three bleeds so i will not think of hemophilia you start screening them if there is a family history you start screening them if you are if somebody is undergoing circumcision you start screening so these are little more difficult things but they have to be adopted and finally dr sunita is there a hemophilia c yes there is an entity it is due to the deficiency of the factor 11 but it is very very rare we usually see the hemophilia a and the hemophilia b hemophilia is very rare very very rare of course there is in the books it is written so there is an entity called hemophilia c and that is from the deficiency of factor 11 and remember whether it is 8 or 9 or 11 or main plotting factor deficiency they tend to have a similar bleed and in the same line we would also mention that these are all inherited defects tangential deficiency of factor 8 or 9 11 but there can also be a acquired hemophilia so hemophilia does not stop at abc it goes to acquired also very nice i think we are we are just running short on our time are there any more comments questions [Music] no sir i don't think anymore i think and let me tell you india is doing very well in the field of hemophilia and in fact one of the acts that came in thanks to some of our efforts in the way that it went in there is the rights of persons with disabilities 2016 which has empowered them to get into schooling college education job and reservation plus they get so many other benefits you don't see it in many countries and so several of the states are providing regular support to the persons with hemophilia for long times long times means i'm talking about more than a decade so they give them regular money and things like that so india is doing well the only thing i request and ask for is everybody who is here should know about this disease and if you are not sure whether it could be hemophilia or not if you are in doubt please send them to the nearest center where some diagnostic facility that was a very important question diagnostic facilities available and then you can continue managing them and remember as of now short of gene therapy there is nothing that you give clotting factor once and that takes care of it for the like okay yeah so i don't see any raised hands so i think uh there are no more questions from the audience but uh thank you so much for coming in on to netflix it was a very nice session touched up on all the basics and very well summarized by usa uh we do look forward to the next session uh that we have with roshan with y'all thank you so much uh sir nam for coming into netflix um we had a wonderful time and our audience surely has uh gone back with a lot of knowledge thank you so much thank you dr nebedya dr laksh for making it so smooth you know your your efforts and your system was very well done and and of course i thank most of all dr sunita for bringing out all the aspects everybody have a nice evening thank you thank you all and happy thank you and good night

BEING ATTENDED BY

Dr. Murtuza Zozwala & 612 others

SPEAKERS

dr. Naresh Gupta

Dr. Naresh Gupta

Advisor for Hemophilia, Govt. of NCT Delhi and Medical Consultant, Maulana Azad Medical College, New Delhi

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dr. Sunita Agarwal

Dr. Sunita Agarwal

Director Professor, Department of Medicine, Maulana Azad Medical College, Delhi

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dr. Naresh Gupta

Dr. Naresh Gupta

Advisor for Hemophilia, Govt. of NCT Delhi an...

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dr. Sunita Agarwal

Dr. Sunita Agarwal

Director Professor, Department of Medicine, M...

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