Diamond-Blackfan anemia

Rare inherited hypoplastic anemia presenting in inancy.

Clinically similar to 5q-deletion myelodysplastic syndrome manifested by macrocytic anemia, RBC transfusion dependency, low reticulocyte count, relative platelet and neutrophil production, with a risk of transformation to AML.

Ribosomal protein deficiency implicated as a cause.

Approximately 25% of patients have a mutation in RP S 19.

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