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.
Facts
Classification
Body SystemLymphatic or Immune System 1 ICD-10 ChapterIII: Diseases of the Blood and Blood-Forming Organs and Certain Disorders Involving the Immune Mechanism 1 Communicable or Non-communicable Causative Agent
Causative Agent (category) First Described Sources
1. Diamond-Blackfan anemia (Wikipedia)
Lead paragraph
Diamond-Blackfan anemia (DBA) is a congenital pure red blood cell aplasia that usually presents in infancy.
Lead paragraph, history
Year First Described: The condition was initially noted by Hugh W. Josephs in 1936, but received its name from American pediatricians Louis K. Diamond and Kenneth Blackfan, who formally described it in 1938.
Lead paragraph, genetic basis
Primarily autosomal dominant inheritance with incomplete penetrance; approximately 70% of cases involve mutations in ribosomal protein genes.
lead sentence 1
Diamond-Blackfan anemia (DBA) is a congenital pure red blood cell aplasia that usually presents in infancy.
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