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Pathology · Haematology: transfusional siderosis in thalassaemia
Sample itemA 14-year-old with beta thalassaemia major on regular transfusions, who has not been taking chelation, develops arrhythmias and heart failure. Cardiac MRI shows a markedly shortened T2* signal. Which pathological change is responsible?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Haemosiderin deposition in cardiac myocytes
Repeated transfusions and increased absorption overload the body with iron. Haemosiderin accumulates in the heart, liver and endocrine glands, and cardiac siderosis remains a leading cause of death in poorly chelated thalassaemia major.
Option by option
A. Haemosiderin deposition in cardiac myocytes (correct)
Correct. Iron deposition in myocytes shortens T2* and causes arrhythmia and cardiomyopathy.
B. Amyloid deposition between myocytes
Amyloid is not a feature of thalassaemia and would not shorten T2* in this way.
C. Coronary thrombosis with myocardial infarction
Young patients with thalassaemia do not have coronary thrombosis as the usual cause of their cardiac failure.
D. Non-caseating granulomas in the myocardium
Granulomas are seen in sarcoidosis and infections and are not caused by iron overload.
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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