Rheumatology & Haematology — Flashcards

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

Beta thalassaemia _____ is due to β+/β+ or β+/β0 and presents with moderate anaemia

FBC for essential thrombocythaemia has sustained isolated _____

Spot diagnosis = _____

Haemophilias present with _____ commonly affecting the knees, ankles, & elbows; recurrent ecchymoses; and prolonged haemorrhage particularly after surgery/procedures

Which coagulation disorder presents with recurrent haemarthroses, spontaneous / easy bruising, and bleeding after surgery? _____

Haemophilia B is an _____ pattern of inheritance

What is the confirmatory diagnostic investigation for thalassaemia? _____

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? _____

What are the initial investigations for suspected haemophilia? _____

Hint: 2