Molecular Diagnosis of Diamond-Blackfan Anemia

Diamond-Blackfan anemia (DBA) is a rare congenital pure red cell aplasia, with an incidence of 4–7 per million live births (1 –5 ). Typically, affected children present in the second or third month of life with profound anemia, often in association with craniofacial (6 ) or thumb anomalies (2 ,7 ), and small stature (2 ). In 15–20% there is a positive family history, characterized by an autosomal dominant pattern of inheritance (2 –4 ). In the majority of cases, the anemia is responsive to steroids, but eventually up to 40% of affected individuals are dependent on a life-long transfusion program, unless they undergo successful stem cell transplantation (2 ,3 ,8 ). Spontaneous remission may occur, although this is unpredictable. In the longer term, there is an increased risk of myelodys-plasia and myeloid leukemia (9 ), and probably also of other malignancies (10 ).