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General Medicine · Haematology: beta-thalassaemia trait
Sample itemA 24-year-old woman has mild fatigue. Haemoglobin is 10.2 g/dL, MCV 62 fL, red cell count 5.6 million per microlitre, RDW normal and serum ferritin 90 ng/mL. The smear shows microcytic hypochromic cells with target cells. Which test best confirms the diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Haemoglobin HPLC showing raised HbA2
Mentzer index is MCV divided by red cell count: 62 / 5.6 is about 11, below 13, which favours thalassaemia over iron deficiency. A normal ferritin and normal RDW support this. Beta-thalassaemia trait is confirmed by HPLC or electrophoresis showing HbA2 above 3.5%, and screening matters in India because of high carrier rates.
Option by option
A. Bone marrow iron stain
A marrow iron stain is invasive and unnecessary when ferritin is normal.
B. Direct Coombs test
A Coombs test detects antibody-mediated haemolysis, which is not suggested by microcytosis with a high red cell count.
C. Serum vitamin B12 level
Vitamin B12 deficiency produces macrocytosis, not microcytosis.
D. Haemoglobin HPLC showing raised HbA2 (correct)
Correct. A raised HbA2 is the hallmark of beta-thalassaemia trait.
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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