MCQ – 89103

Question

A 7-year-old boy with a history of multiple blood transfusions for an undiagnosed condition presents to you with severe jaundice and abdominal distension.O/E there is severe pallor and jaundice with massive splenomegaly. Hemoglobin is 8gm% and serum bilirubin is 12 mg/dl ( direct -2.5,indirect-8.5mg/dl), peripheral smear is attached. What is the most likely diagnosis and what is the most likely defective protein:

A.

Sickle cell disease; Beta chain

B.

Beta thalassemia intermedia ; Beta chain

C.

G6PD deficiency; Glucose-6-phosphatase enzyme

D.

Hereditary spherocytosis; Ankyrin

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