Diamond–Blackfan anaemia

'Diamond–Blackfan anaemia' can also refer to...


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A rare congenital disorder of erythrocyte production (congenital erythroid hypoplastic anaemia, erythrogenesis imperfecta, Aase–Smith syndrome II) which presents in early childhood and in many cases (30–40%) is associated with other disorders, particularly of the upper limb and craniofacial regions. It results from defective erythropoiesis and lack of nucleated erythrocytes in the bone marrow. Approximately 25% of cases of Diamond–Blackfan anaemia appear to be caused by mutation in the gene on chromosome 19 that encodes ribosomal protein S19, although this might have been expected to have a much more dramatic systemic impact.

Subjects: Medicine and Health.

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