Diamond-Blackfan syndrome anemia is a rare congenital progressive erythrocyte aplasia. What is the most probable defect causing this rare disorder?

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Quizplus · Accepted Answer

Diamond-Blackfan syndrome anemia is caused by an intrinsic defect in the erythroid progenitor cells, specifically in the ribosomal protein genes. This leads to impaired production of red blood cells and results in a progressive anemia. A deficiency of erythropoietin or antibodies against erythropoietin would not be the cause of this disorder. Increased reticulocytes may be seen in response to anemia, but it is not the underlying defect causing the condition.

Diamond-Blackfan Syndrome Anemia Is a Rare Congenital Progressive Erythrocyte Aplasia