Bleeding disorders Flashcards
What is haemophilia A caused by?
mutations in FVIII
What is haemophilia B caused by?
mutations in FIX
What are both mutated genes in Haemophilia located?
Chromosome X
What is haemophilia bleeding caused by?
Failure to produce thrombin in response to injury
What are typical haemophilia symptoms?
Joint & muscle bleeding -> joint damage & immobility
What is the haemophilia diagnosis?
Prolongation of aPTT with normal PT
What is therapy for haemophilia?
Prophylactic & on-demand infusion of plasma-derived or recombinant FVIII or FIX
What are quantitative disorders due to?
Reduced platelets production
increased platelet degradation
What is an example of a quantitative disorder?
Thrombocytopenia
What can cause reduced platelet production?
Toxicity of chemotherapeutic drugs leading to death of megakaryocytes
What causes increased platelet degradation?
Immune disease or drug-induced, antiplatelet antibodies leading to platelet loss
What are qualitative disorders?
Defects in platelet function due to rare inherited disorders
What are 5 inherited disorders causing qualitative disorders?
Bernard-Soulier Syndrome - defects in GPIb-IX-V
Glanzmann thrombasthenia - defects in integrinalphaIIbbeta3
Gray Platelet syndrome - alpha granule deficiency
Dense granule deficiency
Defciency of CD-GEFI (Rap1)
What is ristocetin?
Drug that mimics action of vWF
What is Ehlers-Danlos syndrome?
Collagen defects leading to excessive bleeding
