5 Years old Malay boy who is on a regular blood transfusion presented with lethargy, palpitation and anorexia. His brother also faces the same condition. On examination, He appeared pale and tachypnoeic. On abdominal examination, the liver is palpable 5cm below subcostal margin and the spleen is palpable 3cm below subcostal margin.
Hb electrophoresis HbA2 (3.5%)
HbF (92%)
HbA (4.5%)
Questions
1) What is your diagnosis (2m)
2) What is the mode of inheritance responsible for the Hb electropheresis result (1)
3) Explain the findings of her abdominal examination (3m)
4) What type of blood product that you want to transfuse to him? (1m)
5) List the possible long-term complications of the blood transfusion (3m)
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