Rheumatology & Haematology — Flashcards

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

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

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

Hint: investigation

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

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

Haemophilia C has an _____ pattern of inheritance

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

Hint: number

Beta thalassaemia _____ is the most severe form of the disease; causes severe anemia a few months after birth

Haemophilia A is an _____ pattern of inheritance

What is the most accurate investigation for haemophilia? _____