Canadian Medical Guide > Diseases > Hemic and Lymphatic Diseases > Hematologic Diseases > Anemia > Anemia, Aplastic > Anemia, Hypoplastic, Congenital Terms and Definitions
Anemia, Hypoplastic, Congenital
Medical Definition: | An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes LEUKOPENIA and THROMBOCYTOPENIA. |
Previously Indexed: | Anemia, Aplastic (1970-1991),Fanconi Anemia (1992-2001) |
Anemia, Diamond-Blackfan - A rare congenital hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (Curr Opin Hematol 2000 Mar;7(2):85-94) | |
Fanconi Anemia - Congenital disorder affecting all bone marrow elements, resulting in anemia, leukopenia, and thrombopenia, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous chromosome breakage is a feature of this disease along with predispostion to leukemia. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD, FANCE, FANCF, FANCG. (from Online Mendelian Inheritance in Man, https://www.ncbi.nlm.nih.gov/Omim, MIM# 227650, April 23, 2001) |
Anemia, Hypoplastic, Congenital Medical Definitions and Terms
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