DBA Foundation

The Disease
Diamond Blackfan Anemia (DBA) is a rare anemia manifesting itself during infancy and childhood. It results from the failure of the bone marrow to produce red blood cells. The first two cases were described in 1936, followed by a more detailed report of four cases by Drs. Diamond and Blackfan in 1938. Many other names have been applied to this syndrome including Congenital Hypoplastic Anemia, Chronic Congenital Aregenerative Hypoplastic Anemia, and Erythrogenesis Imperfecta.

Presently there are over 350 known DBA patients in the United States and Canada alone. There are approximately 400 cases reported in the literature. Of the reported cases, males and females are equally affected.

This disorder is very heterogeneous. Its etiology is still unclear although the red blood cell defect seems to lie within the progenitors for red cell production.

Aside from anemia, many DBA patients also report various physical anomalies. Of the patients from whom data are available, 48% have at least one physical anomaly, with 23% of the patients having more than one anomaly. Forty-one percent have face/head anomalies, and 36% have upper limb and hand anomalies, mostly involving the thumb. Thirty-three percent have genitourinary anomalies, and 27% have cardiac anomalies. Twenty-one percent of these patients report short stature including 11% percent which are not related to steroid therapy.

The Diagnosis
For those affected by DBA, anemia is usually profound at the time of diagnosis. For example, at The Hospital for Sick Children in Toronto, Canada, hemoglobin levels averaged 6.5 g/dl in patients diagnosed in the first two months of life and 4.0 g/dl in those diagnosed later.

To date there are no definite tests to diagnose DBA. However, the uniform diagnostic criteria for all cases are: (1) normochromic-macrocytic anemia presenting in 90% of cases in the first 12 months of life; (2) profound reticulocytopenia; (3) normocellular marrow with a selective, marked deficiency of red cell precursors; (4) increased serum levels of erythropoietin; (5) normal or slightly decreased white cell counts; and (6) normal or increased platelet counts. Fetal hemoglobin is usually increased.

DBA is not due to a deficiency of iron, vitamin B-12, folate, or the blood cell stimulating factor - erythropoietin, since all are found to be elevated in these patients. In addition, one red cell enzyme, Adenosine Deaminase (ADA), is increased in many DBA patients, but this is not a diagnostic test for DBA. At present, this test can help distinguish DBA from other anemic disorders.