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Pediatrics · Haematology
Sample itemA 9-month-old child of Mediterranean descent has progressive pallor since 5 months of age, hepatosplenomegaly and frontal bossing. Haemoglobin is low with microcytic hypochromic cells and many target cells and nucleated red cells. Which test most reliably confirms the diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Haemoglobin electrophoresis or HPLC
The history and smear suggest beta thalassaemia major. Electrophoresis or HPLC shows raised fetal haemoglobin and absent or very low HbA, confirming the diagnosis. Iron studies help exclude iron deficiency but do not establish thalassaemia.
Option by option
A. Serum ferritin
Ferritin is normal or raised here and cannot confirm thalassaemia.
B. Bone marrow aspiration
Bone marrow shows erythroid hyperplasia but is not needed and is not specific.
C. Haemoglobin electrophoresis or HPLC (correct)
Correct. It demonstrates the characteristic haemoglobin pattern.
D. Direct Coombs test
A Coombs test detects autoimmune haemolysis, which does not produce this picture.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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