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.
Gojic
V
V
Department of Pediatrics, University Hospital, Leiden, The Netherlands.
van't Veer-Korthof
E T
ET
Bosch
L J
LJ
Puyn
W H
WH
van Haeringen
A
A
D000328:Adult; D005199:Fanconi Anemia / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree