title: Severe congenital hypoplastic anemia. Transmission from a healthy female to opposite sex step-siblings.
abstract: Congenital hypoplastic anemia (CHA) is a rare entity characterized by selective depression of erythropoiesis. The disease was first described in 1938, in four patients reported by Diamond and Blackfan, followed by a number of longitudinal studies and reviews of approximately 175 well-documented cases and/or unpublished records. The typical patient presents in infancy (median 1 month of age) with pallor. In as many as 30% of the patients there is an inconsistent pattern of congenital anomalies of the heart, integument, musculoskeletal system, and kidneys. Although its congenital nature is firmly established, the pathophysiology is still unknown, and it is likely that there are multiple biochemical or cellular defects producing the same clinical syndrome. That the disease is genetically determined is suggested by some cases accompanied by congenital anomalies, by racial differences--only a few blacks and one Asian have been described--and by multiple occurrences in some families. The number of such families is small, and the mode of inheritance appears inconsistent. The purpose of this report is to emphasize the apparently variable genetics of a disease which is undoubtedly variable in its clinical expression. We describe the unique occurrence of CHA in half-siblings of opposite sex, both with moderately severe disease, transmitted by a healthy female.
mesh_terms: D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000235:genetics*; D000745:Anemia, Hemolytic, Congenital / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D012737:Sex Factors