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.