Congenital hypoplastic anemia: another example of autosomal dominant transmission

Congenital hypoplastic anemia (CHA) or Blackfan-Diamond anemia (BDA) is a rare congenital abnormality of erythropoiesis characterized by normochromic, macrocytic anemia presenting in infancy or early childhood. Associated phenotypic abnormalities such as triphalangeal thumbs and cleft lip and/or palate are found in 70% of cases. Although most cases are sporadic, several reports suggest either autosomal dominant or autosomal recessive inheritance. We report on a 3 generation family with autosomal dominant inheritance of CHA.