Rheumatology & Haematology — Flashcards

Haemophilia B is an _____ pattern of inheritance

Haemophilia A can arise from a(n) _____ mutation without any family history (20%)

~80% of cases are haemophilia _____ caused by genetic factor VIII deficiency

Patients with microcytic hypochromic anaemia and family history of thalassaemia should get _____ done first

Hint: investigation

What are the initial investigations for suspected haemophilia? _____

Hint: 2

_____ thalassaemia is usually due to gene mutations Alpha thalassaemia is usually due to gene deletions

_____ are caused by deficient clotting factors, which leads to haemoarthrosis, recurrent ecchymosis, and prolonged haemorrhages

The most common cause of thrombocythaemia is _____ that is triggered by infection, inflammation, etc

_____ alleles encode for the x2 α-globin chain 2 alleles encode the x2 β-globin chains

Hint: number

A young boy presents with heamarthrosis and easy bruising. Coagulation studies reveal ↑ aPTT & normal PT. Mixing studies are corrected. You suspect haemophilia. What other bleeding disorder must be ruled out? _____