Multiple mechanisms for hereditary sideroblastic anemia.
Hereditary sideroblastic anemia (HSA) is a heterogeneous group of inherited anemic disorders which is characterized by the presence of ringed sideroblasts in the bone marrow, microcytic hypochromic anemia and typically its X-linked inheritance in patients. It has been shown that a deficiency of the erythroid-specific delta-aminolevulinate synthase (ALAS-E) activity is responsible for pyridoxine-responsive HSA in many patients, however, the pathogenesis of other types of HSA remains still unknown. In this article, recent evidence suggesting multiple causes for HSA is summarized and discussed.
Furuyama
Kazumichi
K
Tohoku University School of Medicine, Sendai, Japan.
Sassa
Shigeru
S
D000624:5-Aminolevulinate Synthetase / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D000756:Anemia, Sideroblastic / Q000201:enzymology / Q000209:etiology / Q000235:genetics*; D005192:Family Health; D018740:Genetic Heterogeneity; D006801:Humans; D017354:Point Mutation; D011485:Protein Binding; D013389:Succinate-CoA Ligases / Q000378:metabolism
D000624:5-Aminolevulinate Synthetase; D013389:Succinate-CoA Ligases