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Pediatrics · Haematology: Diamond-Blackfan anaemia
Sample itemA 3-month-old has severe macrocytic anaemia with reticulocytopenia and isolated absence of red cell precursors in the marrow with normal white cells and platelets. What is the first-line treatment?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Corticosteroids
Diamond-Blackfan anaemia is a congenital pure red cell aplasia with ribosomal protein gene mutations, elevated erythrocyte adenosine deaminase and congenital anomalies such as thumb abnormalities. About 60 to 70 percent respond to prednisolone. Others need regular transfusion or stem cell transplant.
Option by option
A. Vitamin B12
B12 deficiency is not the cause.
B. Splenectomy
Splenectomy does not treat red cell aplasia.
C. Oral iron
Iron deficiency is not the cause.
D. Corticosteroids (correct)
Correct. Steroids are first-line therapy.
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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