Rheumatology & Haematology — Flashcards

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

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

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

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

Hint: number

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

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

Public Health England recommend all _____ women are screened for thalassaemia

On palpation beta thalassaemia can present with _____ because of extramedullary haematopoiesis

An italian patient presents with fatigue, pallor, & tiredness with microcytic hypochromic RBCs and normal iron studies and ↓ RDW. What is the next step? _____

Hint: next step?

Alpha thalassaemia _____ is due to --/αα or -α /-α and presents with mild anaemia