CONGENITAL HYPOPLASTIC-ANEMIA - ANOTHER EXAMPLE OF AUTOSOMAL-DOMINANTTRANSMISSION

Congenital hypoplastic anemia (CHA) or Blackfan-Diamond anemia (BDA) i s a rare congenital abnormality of erythropoiesis characterized by nor mochromic, 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 au tosomal recessive inheritance. We report on a 3 generation family with autosomal dominant inheritance of CHA. (C) 1994 Wiley Liss, Inc.