Diamond-Blackfan anemia (DBA; MIM#205900) is a rare disorder manifested as a pure red cell aplasia in the neonatal period or in infancy. The clinical hallmark for DBA is a selective decrease in erythroid precursors and anemia. Other lineages are usually normal with a normal peripheral white blood cell count. In approximately one third of cases the disease is associated with a wide variety of congenital anomalies and malformations. The majority of cases are sporadic but 10%-20% of cases follow a recessive or a dominant inheritance pattern. A female with DBA and a chromosomal translocation involving chromosome 19q was recently identified. We undertook a linkage analysis with chromosome 19 microsatellite markers in DBA families of Swedish, French, Dutch, Arabic and Italian origin. Significant linkage to chromosome 19q13 was established for both dominant and recessive inherited DBA with a peak lod score of 7.08 (Θ=0.00). Within this region, a submicroscopic de novo deletion of 3.3 Mb was identified in a patient with DBA. The deletion coincides with the translocation breakpoint and, together with key recombinations, they restrict the DBA gene to a 1.8 Mb region. The results suggest that DBA, despite its clinical heterogeneity, is genetically homogeneous for a gene in 19q13.

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