Introduction
Diamond-Blackfan Anemia (DBA) is characterized by anemia (low red blood cell
counts) with decreased erythroid progenitors in the bone marrow.
This usually develops during the neonatal period. About 47% of affected individuals also have a
variety of congenital
abnormalities, including craniofacial malformations, thumb or upper limb abnormalities,
cardiac defects, urogenital malformations, and cleft palate.1
Low birth weight and generalized growth delay are sometimes observed. DBA
patients have a modest risk of developing leukemia
and other malignancies.2,3,4
Diamond
and Blackfan
described congenital hypoplastic anemia in 1938.2
In 1961, Diamond and colleagues presented longitudinal data on 30 patients and noted an
association with skeletal abnormalities.5 In 1997
a region on chromosome 19 was determined to carry a gene mutated in DBA.1,6
In 1999, mutations in the ribosomal protein S19
gene (RPS19) were found to be associated with disease in 42 of 172 DBA
patients.7 In 2001, it was determined that a
second DBA gene lies in a region of chromosome 8 although evidence for further
genetic heterogeneity was
