Rheumatology & Haematology — Flashcards

Patients with thalassaemias will be offered genetic _____ and family members will be offered screening

_____ is due to --/-α and presents with moderate/severe anaemia

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

Hint: number

Beta thalassaemia _____ is due to β/β+ or β/β0 and presents asymptomatically

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

Haemophilia has _____ aPTT and normal PT

FBC for essential thrombocythaemia has sustained isolated _____

~20% of cases are haemophilia _____ caused by genetic factor IX deficiency

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

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