Diamond-Blackfan anemia

Diamond-Blackfan anemia is a congenital pure red blood cell aplasia that usually presents in infancy. It is a genetic blood disorder primarily following autosomal dominant inheritance with incomplete penetrance; about 70 percent of cases involve mutations in ribosomal protein genes. The condition was first noted by Hugh W. Josephs in 1936 and formally described by American pediatricians Louis K. Diamond and Kenneth Blackfan in 1938. It causes anemia while leaving platelets and white blood cells unaffected, and about 47 percent of patients also have congenital abnormalities including craniofacial malformations, thumb abnormalities and cardiac defects.