Hemophilia Types – hemophilia A, Hemophilia B, and Hemo… — Transcript

Hey guys, it's your favorite medical channel, Medicos Whisper Fiction. A nurse or medicine makes perfect sense. In the previous videos, we have talked about hemophilia, hemophilia B, and hemophilia C. Today, we'll compare among the three. Don't forget, hemophilia A is factor 8, hemophilia B is factor 9, how about C? Don't say 10, say 11. Hemophilia is the royal disease, and we have talked about this before. Normally, when you bleed, you should clot, but this is not going to happen if you have a secondary hemostasis defect such as hemophilia. These are the steps of hemostasis. As you know, hemophilia is a problem here. If I have a problem with factor 8, this is hemophilia A. With factor 9, listen, hemophilia B. With factor 11, this is hemophilia C, yes. A secondary hemostasis defect. We use PT and PTT to test for them. PT is for the extrinsic pathway. This is normal in hemophilia, but PTT, the intrinsic pathway, is abnormal. That's why the lab test is prolonged in hemophilia regardless of the subtype. This is primary hemostasis, but we don't care about this right now. This is secondary hemostasis, and we do care about this right now. Here is hemophilia A, here is hemophilia B, and here is hemophilia C. Touchdown, baby! Oh, and we have a pharmacology marathon on Facebook. Please join us, it's epic. Mediocre students do not study in July and August, but not you guys, you're killing it. A problem with factor 8 is called hemophilia A or classic hemophilia. A problem with factor 9 is hemophilia B or Christmas disease. A problem with factor 11 is hemophilia C or Rosenthal syndrome. Secondary hemostasis is the problem in cases of hemophilia. It's not uncommon for a patient with hemophilia to experience late bleeding, hemarthrosis, deep muscle bleeding, rich burgi of bleeding, intracranial bleeding, etc. Hemophilia A, a problem with factor 8, is an X-linked recessive disease. Hemophilia B is an X-linked recessive problem with factor 9. Hemophilia C is autosomal recessive. The problem with factor 11 is not X-linked recessive. Therefore, it's going to be more common in boys if it's autosomal recessive. Remember consanguinity. Hemophilia A is X-linked recessive, almost always males. One in every 10,000 males usually have hemophilia A. The pathophysiology is a problem with the activity of factor 8. The calculation of factor number 8 could be due to a deficiency of the factor or an inhibitor, an antibody against the factor. Clinically, deep bleeding such as hemarthrosis, hematomas, etc. Please count is normal, bleeding times normal, yeah, because primary hemostasis is fine. Factor 8 activity is low. Factor 8 level could be low if it's a deficiency, could be normal if it's an inhibitor. How do I talk to the friends between underproduction or over destruction? You do a mixing study. If the lab tests normalize, it was a deficiency. If it's still low, it's an inhibitor. Treatment of hemophilia A: plasma-derived factor 8 concentrate, recombinant factor 8, something called the NEC zoom amber, which is hemlibra. Also, desmopressin can help because, as you know, desmopressin will facilitate the expression of von Willebrand factor, which will help factor 8. Next, hemophilia B or Christmas disease. After D, the story about Christmas disease and Steven Christmas before hemophilia B. This is the one that happened to Queen Victoria's grandchildren. Here again, almost always male, but this is one in every twenty-five thousand. This is less common than hemophilia A. Pathophysiology: problem with factor 9 activity could be deficiency, could be inhibitor. The same depleting, same thing, mixing study, everything, just instead of factor 8 say factor 9, instead of factor 8a, factor 9. My famous antibiotics course is on sale right now. Get a 25% discount by using the promo code ANTIBIOTICS25 at medicosisperfiction.com. This is only available for a limited number of students. Hemophilia C is not X-linked recessive. In fact, it is autosomal recessive. Therefore, consanguinity. Therefore, it's going to be more common in a certain group or population. In case of hemophilia C, it's Eastern European Jews or the Ashkenazi Jews. We have talked about some autosomal recessive diseases before, and we have emphasized consanguinity as one of the factors, not the only factor, it's one of the factors. And this is the genetic pedigree that explains why consanguinity is associated with autosomal recessive diseases. Poor Judy. Hemophilia C is autosomal recessive, therefore consequently Ashkenazi Jewish population. Pathophysiology: the problem is factor 11. Deep bleeding, same exact thing, just substitute factor 11 for factor 8 and you're good to go. Hemophilia, whether it's A, B, or C, will have normal platelet count, normal bleeding time, normal PT, but a prolonged aPTT, activated partial thromboplastin time. Let's compare between the three diseases in this marvelous table: hemophilia A, B, and C. Synonyms: this is the classic hemophilia A, this is the Christmas disease, this is the Rosenthal syndrome. Inheritance: X-linked recessive, X-linked recessive, be careful, it is autosomal recessive. Epidemiology: if it's X-linked recessive, therefore boys more than girls, all these more than girls. Autosomal recessive doesn't matter, but remember autosomal recessive, therefore consanguinity common. This is the most common by far and also the worst. It's the most severe as well. The defect is in secondary hemostasis, specifically the intrinsic pathway. If it's hemophilia A, we have prime factor 8, B factor 9, C factor 11. How about platelet count and time? Since the primary hemostasis is fine, they will be normal across the board. PT, since the extrinsic pathway is normal, they will be normal across the board. However, aPTT is the intrinsic pathway. If it's factor 8, factor 9, or factor 11, all of them are in the intrinsic pathway, and that's why aPTT will be prolonged in all of them. Treatment: recombinant factor 8, recombinant factor 9, recombinant factor 11, freaking desmopressin or DDAVP can help with hemophilia A only because it helps factor 8 only. Okay, better kosis, but is there such a thing as acquired hemophilia? You told me that hemophilia A and B are X-linked recessive, whereas hemophilia C is autosomal recessive. Okay, all of them are congenital. Is there such a thing as acquired hemophilia? Yeah, but we do not say acquired hemophilia. We say acquired factor inhibitor or acquired factor deficiency. This is an antibody against factor 8, factor 9, and factor 11 respectively. But please do not say acquired hemophilia because it gets confused with the congenital hemophilia. If it's congenital, called hemophilia. If it's acquired, called acquired factor inhibitor. For example, acquired factor 8 inhibitor, acquired factor 9 inhibitor, etc. Late complications of hemophilia: if you want some exam questions that very few students will be able to answer, there you go. Hemophilic arthropathy, multiple hemorrhages, add a target joint. Most common is the knee, ankle, and elbow. This can happen, and it's called hemophilic arthropathy. Very important: development of antibodies. So, I am a patient, I have hemophilia. Doctors gave me factor 8, if it's hemophilia A, for instance, and then I developed an antibody against factor 8. Whew, that's bad. And this is that so-called acquired hemophilia, but do not say acquired hemophilia, say acquired factor inhibitor. Transfusion-related infections: remember the HIV that happened in Steven Christmas, but now we screen blood for HIV, so therefore you are receiving HIV in blood transfusion is very unlikely. However, what is likely is parvovirus B19 leading to transient aplastic crisis. If you remember my hematology playlist, we have talked about this a lot. It happened to patients with beta thalassemia. It happened to patients with sickle cell anemia, etc. And the nasty, ugly son of a—prion disease such as Creutzfeldt-Jakob disease. Question number twenty-nine in this glorious playlist on bleeding and coagulation disorders: please mention six or more X-linked recessive diseases. Let me know the answer in the comment section. You'll find the correct answers in the next video. Let's talk about hemophilia A from pick Monica Mophie Leah. This is the hemophilia file. What's going on? Genetic mutation, these are abnormal genes. There is prolong...

factor 8 a 8 B is 9 how about C don't say 10 say 11 hemophilia is the Royal disease and we have talked about this before normally when you bleed you should clot but this is not gonna happen if you have a secondary

hemostasis defect such as hemophilia these are the steps of hemostasis as you know hemophilia is a problem here if I have problem with factor 8 this is hemophilia A with factor 9 listen mafida be with factor 11 this is him with a yes

a secondary hemostasis defect we use PT and PTT to test for them PT is for the extrinsic pathway this is normal in hemophilia but PTT the intrinsic pathway is abnormal that's why the lab test is prolonged in hemophilia regardless of

the subtype this is primary hemostasis but we don't care about this right now this is secondary hemostasis and we do care about this right now here is hemophilia a here is hemophilia B and here is a movie ESC touchdown baby

oh and we have a pharmacology Marathon on Facebook please join us it's epic mediocre students do not study in July and August but not you guys you're killing it a problem with factor 8 is called hemophilia A or Class A chemo

Feeny a problem with factor 9 is hemophilia B or Christmas disease problem a factor 11 is movs C or Rosenthal syndrome secondary hemostasis is the problem in cases of hemophilia it's not uncommon for a patient with him who fear to experience lately bleeding

him arthrosis deep muscle bleeding Richard Burgi of bleeding intracranial bleeding etc hemophilia a problem with factor 8 it's an x-linked recessive disease hemophilia B x-linked recessive problem factor 9 hemophilia co2 zama recessive the problem with factor 11 if it's x-linked

recessive therefore it's gonna be more common in boys if it's autosomal recessive remember consanguinity hemophilia a x-linked recessive almost always males one in every 10,000 males usually have he philia a path of his problem with activity of factor 8 calculation factor

number 8 could be due to a deficiency of the factor or an inhibitor and antibody against the factor clinically deep bleeding such as him arthrosis hematomas etc please count is normal bleeding times normal yeah because primary hemostasis is fine

factor 8 activities low factor 8 level could be low if it's a deficiency could be normal if it's an inhibitor how do I talk to the friends between an under production or over destruction you do a mixing study if the lab tests normalize

it was a deficiency if it's still low it's an inhibitor treatment of haemophilia a plasma derived factor 8 concentrate recombinant factor 8 something called the NEC zoom amber which is him Libra also desmopressin can help because as you know desmopressin

will facilitate the expression of levanta Lybrand factor which will help factor 8 next hemophilia B or Xmas disease after D the story about Christmas disease and Steven Christmas before hemophilia B this is the one that happened to Queen Victoria's

grandchildren here again almost always male but this is one every twenty five thousand this is less common than haemophilia a pathophysiology problem with factor 9 activity could be deficiency could be in have the same depleting same thing mixing study

everything just instead of factor 8 say factor 9 instead of factor 8a factor 9 my famous anti biotics course is on sale right now get a 25% discount by using the promo code antibiotics 25 at medicos is perfectionist calm this is only

available for a limited number of students hemophilia C is not x-linked recessive in fact it is autosomal recessive therefore consequence e therefore it's gonna be more common in a certain group or population in case of hemophilia C its

Eastern European Jews or the Ashkenazi Jews we have talked about some autosomal recessive diseases before and we have emphasized consanguinity as one of the factories not the only factor it's one of the factors and this is the genetic

pedigree that explains why consanguinity is associated with the autosomal recessive diseases poor judy hemophilia c autosomal recessive therefore consequently therefore Ashkenazi Jewish population pathophysiology the promise factor 11 deep bleeding same exact thing just substitute factor 11 for factor 8 and you're good to go

hemophilia whether it's a B or C will have normal play account normal bleeding time normal PT but a prolonged a PTT activated partial thromboplastin time let's compare between the three diseases and this marvelous table hemophilia A B and C synonyms this is the classic a

movie yeah this is the chrismas disease this is their Rosenthal syndrome inheritance excellent recessive exorcism be careful it is AMA racism epidemiology if it's x-linked recessive therefore boys more than girls all these more than goes on recessive doesn't matter

but remember autosomal recessive therefore can sanguinetti common this is the most common by far and also the worst it's the most severe as well the defect is in secondary hemostasis specifically the intrinsic pathway if it's haemophilia a we have prime factor

8 b9 c11 how about plated counting time since the primary hemostasis is fine they will be normal across the board PT since the extrinsic pathway is normal they will be normal across the board however a PTT is the intrinsic pathway if it's factor 8

factor 9 or factor 11 all of them are in the intrinsic pathway and that's why PTT will be prolonged in all of them tremont recombinant factor 8 recombinant factor 9 recombinant factor 11 freaking desmopressin or ddavp can help with

hemophilia a only because it help factor 8 only ok better kosis but is there such a thing as acquired hemophilia you told me that haemophilia a and B are x-linked recessive whereas hemophilia C is autosomal recessive okay all of them are

congenital is there such a thing as acquiring McCrea yeah but we do not say acquired him for you we say acquired factor inhibitor or acquired factor deficiency this is an antibody against factor 8 factor 9 and factor 11

respectively but please do not say acquired him up here because it gets confused with the genital hemophilia if it's congenital called hemophilia if it's acquired called acquired factor inhibitor for example acquired factor 8 inhibitor acquired factor 9 inhibitor etc late

complications of hemophilia if you want some exam questions that very few students will be able to answer there you go hemophilia arthropathy multiple humor throw DS add a target joint most common is the knee ankle and elbow this

can happen and it's called hemolytic arthropathy very important development of antibodies so I am a patient I have hemophilia doctors gave me factor eight if it's a mafia a for instance and then I developed o to antibody against factor

eight whew that's bad and this is that so-called acquired him fear but do not say acquired in fiance acquired factor inhibitor transfusion related infections remember the HIV that happened in Steven Christmas but now we screen blood for HIV so therefore you are receiving HIV

in blood transfusion is very unlikely however what is likely is parvo b19 virus leading to transient aplastic crisis if you remember my hematology pilatus we have talked about this a lot it happened to patients with beta thalassemia it happened to patient with

sickle cell anemia etc and the nasty ugly son of a-- prion disease such as kruetzfeldt Jakob disease question number twenty nine in this glorious playlist on bleeding and coagulation disorders please mention six or more x-linked recessive diseases let me know

the answer in the comment section you'll find the correct answers in the next video let's talk about hemophilia a from pick Monica Mophie Leah this is the he-man file what's going on genetic mutation these are abnormal genes there

is prolonged bleeding there is pain and there is him arthrosis interventions we give the clotting factor so we replace the clotting factor desmopressin can help with hemophilia a anti fibrinolytic therapy and analgesics genetic counseling is important and tried to prevent injury because even a

minor scans crash can lead to severe bleeding and this was pick Monica go to pick monitors calm slash VIP hookup slash miracles and we'll hook you up thank you so much for watching you lovely people really subscribe hit the bell and click on the

join button support me here or here go to my website to get my anti biotics course go to pick Manik we're learning medicine is easy fun and memorable thank you for watching as always be safe stay happy and study hard this as medicos is

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