Transcript for:
Hemophilia B and Bleeding Disorders

hey guys it's your favorite medical channel medicos whisper fiction elsewhere medicine makes perfect sense let's resume our playlist on bleeding and coagulation disorders in the previous video abstract about hemophilia a witch had a problem with factor 8 today we'll talk about hemophilia Bay with a problem in factor 9 so that said now let's get started let me answer the question of the previous video a 5 year old female 46 XX has severe symptoms of hemophilia error factor 8c activity is very low please explain in the comment section someone told me how about Turner syndrome Turner is absolutely right if I have Turner syndrome I have 1 X so an x-linked recessive disease will also affect me even though I was supposed to be a carrier there's only one problem Turner syndrome will not be 46 X X turn syndrome in fact will be 45 comma X O or you can write it this way 43 plus X oh oh is 4 0 so what's the correct answer we have two correct answers or two possibilities first possibility is the abnormal in activation or lien ization of the normal X chromosome so normally females have xx but they only need one X so they will inactivate one of them and will leave the other one active so if I have an abnormal one and a normal one I should inactivate the abnormal one and leave the normal one active yeah but if I have abnormal in activation or ionization of the normal X chromosome I have inactivated the normal and now I'm left with the normal chromosome being active causing the symptoms of hemophilia there is another possibility what is this her mother is a carrier for hemophilia a and her father has hemophilia disease her father will give her the abnormal X chromosome there is no question about it and there is a 50% chance that her mother will give her the abnormal X chromosome in this case she will suffer from actual disease not a carrier but actual hemophilia disease so these are the two possibilities that's a solid question man now hemophilia is the row disease because Queen Victoria actually her daughter's had were carriers for hemophilia B not a but it's okay both of them are x-linked recessive diseases please watch my previous video to learn about this freaking medically relevant dynasty okay so normally normally what should happen when I believe I should clot by primary hemostasis Thank You platelets and secondary hemostasis Thank You coagulation factors but if I have hemophilia I have problems with secondary hemostasis by the way we have a pharmacology marathon and Facebook please join us gazillion questions are available and will be available soon so where is the problem in hemophilia it's with the coagulation with the secondary hemostasis specifically with factor 8 if this is hemophilia a factor 9 if this is hemophilia B skip 10 and go to factor 11 this is Himalayas C hemophilia a and B are x-linked recessive but haemophilia C is suitors on the recessive when I say x-linked recessive what should you think of boys it's gonna be way way way more common in males and females when I say autosomal recessive what should you think of consanguinity so we have established the team filly as a problem with secondary hemostasis okay is it intrinsic pathway or extrinsic pathway problem is an intrinsic pathway problem that's why a PTT will be prolonged however PT for the extrinsic pathway will be absolutely normal so whether the problem is in factor 8 9 or 11 all of them and I mean all of them are in the intrinsic pathway here is primary hemostasis but we do not care about this right now hemophilia a is a problem with vector 8 hemophilia B is a problem with factor 9 how about hemophilia C we have a problem with factor 11 please skip 10 because 10 is here in the common pathway coagulation factors numbers names and diseases we have talked about a fibers name here before - thrombin Eemian before remember a fibrous anemia could be bleeding could be clotting to have a type of thrombin emia always bleeding how about a factor v we have two different diseases we have para hemophilia it's called parity Murphy Nia so bleeding and there's another dis called factor v leiden clotting theorem BOCES baby specifically venous thromboembolism or VTE haemophilia a is factor 8 Amelia B is factor 9 and if we ESC is factor 11 thank you so much I'm Olivia a the factors called anti hemophiliac factor and this is known as classic hemophilia about hemophilia B this is Christmas disease and the factor is factor 9 or Christmas backwater called Christmas leaves because the first patient was Stephen Christmas hemophilia C is a problem with factor 11 and this is called the plasma thromboplastin antecedent all hemophilia is have problems with secondary hemostasis problems with coagulation factors expect a problem with your fibrin thrombus pt/ptt and TT but all Hima Phinehas are intrinsic pathway that's why PTT is prolonged anatomical or deep tissue bleeding is the main symptom including joint hemorrhage called him are through these muscle hemorrhage called muscle hematoma brain hemorrhage late repeating bleeding after tooth extraction bleeding after surgery and retroperitoneal bleeding here are the symptoms of hemophilia as we have talked about before hemophilia A or Class A came Ophelia is an x-linked recessive disease the problem is with factor 8 activity could be a deficiency of the factor or an inhibitor against the factor how do we tell the difference a mixing study hemophilia B is Christmas diseases an x-linked recessive disease we have a problem with factor 9 it could be a deficiency or an inhibitor how do I tell the difference a mixing study hemophilia C or Rosendale syndrome is an autosomal recessive disease remember constant when T but with excellent reserves ease remember boys haemophilia C has a problem with factor 11 could be a deficiency it could be an inhibitor how do I tell the difference makes the patients blood with normal blood or normal plasma now hemophilia B or Christmas disease I have a video called Christmas in medicine it was epic the clock is running and make the most of today time waits for no man yesterday's history tomorrow is a mystery today is a gift that's why it's called the present ok but the causes does Christmas disease have anything to do with Christmas no it just happened that the first patient were we discovered Christmas disease was called Stephen Christmas here receiving Christmas born in London emigrate to Canada went back to visit London experienced bleeding they took him to Oxford hemophilia center which sound sophisticated the order factored a flow because the only hemophilia that we know about by that time was hemophilia a factor eighth level was normal Oh what how about factor eight activity normal how about like inhibitor to the right map nope a mixing study with a patient containing factor eight so we added factor eight still normal what but the PTT is prolonged Wow how about we mix Stevens plasma with normal plasma Oh normalized what and stuff factor eight what's going on here and then they discover that was factor nine and this was called hemophilia B because b comes after a node uh or christmas disease owing to the fact stephen christmas and then he went back to canada he was dependent on multiple blood transfusion because of his mo fear they did not scream the blood for HIV back then he'd evolved HIV n die from HIV in 1993 what a sad story but nobody kosis why didn't they screen the blood for HIV what happened to canada calm down dude hiv/aids is a relatively new disease it was discovered in 1981 they simply did not know at least extend an olive branch around the maple syrup leaf I'm so sorry just messing with my Canadian friends okay so hemophilia a factor AIDS baby habit hemophilia B factor nine hemophilia C factor eleven thank you here is hemophilia B in nutshell and then we'll dig deeper genetic disease there's decrease factor nine activity could be a deficiency could be an inhibitor habit of the difference mixing study x-linked recessive therefore boys bleeding deep bleeding anatomical bleeding joint bleeding muscle bleeding hematomas retro pertinent waiting in shock renewal bleeding etc how about bleeding time in hemophilia B absolutely normal how about platelet count absolutely normal about PT 4 extrinsic pathway normal PTT prolonged because the problem is in the intrinsic pathway factor nine activity is always low about factor nine level eight freakin the if the patient has a deficiency of factor 9 factor 9 level B whoa but if the patient has an inhibitor against factor 9 then factor 9 level will be normal so it freakin depends please remember that von Willebrand disease had a problem with von Willebrand factor and of course von Willebrand factor used to help factor 8 haemophilia a factor 8 in wadiya B factor 9 in Figure C factor 11 thank you how do we manage hemophilia B factor 9 concentrate Hep B vaccine if the patient didn't have the deficiency but indeed had the antibodies against factor 9 you should give factor 9 a the act of factor 9 do not give the enact a factor 9 it will get absolutely smashed by the antibodies give the active form of 9a maybe it will override the boat and here is everything related to Christmas in medicine Christmas disease hemophilia B glove and stalking distribution there's a diabetic neuropathy Christmas tree pattern is pityriasis rosea reindeer that we have the deer tick which infects deer and mice x-series scapularis which can carry Borrelia burgdorferi flying disease babesia microti not to be confused with babesia microti this is Bevi ciosest anaplasma phagocyte or full a loser come this is anaplasmosis air leak yeah whatever arrow Leakey osis and the same stinking tick can carry Powassan virus causing Powassan virus disease bells jingle bells bells palsy bilateral Bell's palsy Lyme disease by the way snow acrocyanosis and Hamas so this is called agglutinins e snowman and it's just x-ray is let me know the answer in the comments section snowstorm on pelvic ultrasound is high data for mold also snowstorm and snowflakes all over the lung field on chest x-ray is mercury poisoning and if your professor knew this I will retire from YouTube and work for a garbage company because here at MiraCosta spur fiction else we make house m.d. look tame hemophilia B is congenital it's inherited it's her Terry it's excellent versus up there for males one in 25,000 males ok how about in Philly a it one in every 10,000 males kathyface there is decrease factor 9 activity due to deficiency or inhibitor clinically it's the deep bleeding sometimes we can have nicotine is bleeding as well plate counters on wobbling times normal factor in nine activities load factor nine level could be low in deficiency or normal if it's an inhibitor mixing study if it normalize it means there was a deficiency if it did not normalize it's an inhibitor PT is normal PTT is prolonged because of the intrinsic pathway TT is normal because the common pathway is fine calculation x blanca migration factor engulfs all of these previous three no one does quiet asian time anymore treatment plasma derived factor nine concentrate recombinant factor nine or if the patient has an inhibitor give them factor nine a active thanks for the three students that got my antibiotics course yesterday this discount is still available for twelve students use the promo code antibiotics twenty five to get 25% discount towards my course go to many houses perfectionist calm thank you for supporting my work and back to our glorious comparison table here is hemophilia what's played count normal about doing time also normal how about PT normal PTT prolonged hemophilia is depicted in the speak Manik by he man filed the famous cartoon character it's a genetic mutation here are some mutant genes there is prolonged bleeding there is pain the pain bolts and him are throw these here is him and roses how should we treat it clotting factor replacement therapy here is the clot replacing its shoe beautiful desmopressin can help especially with hemophilia A because desmopressin helped the von Willebrand expression which will help factor eight we can try anti fibrinolytic therapy depicted by the end tie fiber lights analgesics for the pain depicted by a nail jay-z these pic money guys are creative genetic counseling is important and prevent the injury because they even a skin scratch can lead to severe bleeding this is pic Manik please go to picmonkey.com slash VIP hookup / meta kosis and they will hook you up with hundreds of pic monix learning medicine has never been easier in the next video we'll talk about hemophilia see the autosomal recessive disease and I will tell you why autosomal recessive is associated with consanguinity and what does that mean for doctors thanks for watching please subscribe hit the bell and click on the join button you can support me here or here go to my website to get my anti products course and go to pick monic if you want to learn medicine in a funny way and by the way it's gonna stick in your memory thank you for watching as always be safe stay happy and study hard this is midi coasters per fiction elsewhere medicine makes perfect sense in the next video we'll talk about hemophilia see