Heme 2.52 Flashcards
what is hemophilia A
AKA factor VIII deficiency,
X-linked disorder; mutations in factor VIII gene
what percentage of patieins with Hemophilia A have a family history of the disease
30%, disease is presumably caused by new mutations
what is the prevalence of hemophilia A
affects about 1 in 5000 males
what are the classifications of hemophilia A
% activity of VIII
5-25=mild
1-5=moderate
<0.5
what is hemophilia B
X-linked disorder; Mutation in the factor IX gene
what is the prevalence of hemophilia B
1 in 30000 males
what are the risks associated with hemophila
increased bleeding with common injuries. in extreem cases, there can be spontaneous and without obvious causes of bleeding
what are the serious places for bleeding to occure
joint capsules
skeletal muscles
GI tract
Brain
what is the most serious symptom of hemophelia
joint bleeds (issues with the healing process)
what is the most common inherited bleeding disorder
Von Willibrand’s disease(vWD)
what are the two major roles of vWF
mediate platelet adhesion
spabiliing factor VIII
what are the two majore causes of thrombocytopenia
A) impaired production of plateletes
B) increased destruction of platelets
what can cause impaired producction of platelets
drugs
bone marrow failure
what causes increased destruction of platelets
idiopathic thrombocytopenic perupura (ITP)
what is thrombophilias
conditions associated with excessive clotting
