[Progress of study on sideroblastic anemia and its possible gene therapy--review].
It was thought that delta-aminolevulinate synthase (ALAS) is the rate-limiting enzyme in the heme biosynthetic pathway. Actually there are two isozymes of ALAS and ALAS2 (erythroid delta-aminolevulinate synthase), they play the leading role in the hemoglobin biosynthetic pathway. Mutations in ALAS2 gene causes X-linked sideroblastic anemia (XLSA). About 25 different mutations in ALAS2 gene have been identified in XLSA patients and two of them were reported by our laboratory. It is possible to cure the patients with XLSA by gene therapy because it is a single gene disorder.
Department of Hematology, The First Hospital, Peking University 100034, China.
Yi-Qun
YQ
Wang
Ping
P
Zhu
D000624:5-Aminolevulinate Synthetase / Q000235:genetics*; D000756:Anemia, Sideroblastic / Q000235:genetics / Q000628:therapy*; D041321:Chromosomes, Human, X / Q000235:genetics; D008040:Genetic Linkage; D015316:Genetic Therapy / Q000379:methods*; D006801:Humans; D009154:Mutation
D000624:5-Aminolevulinate Synthetase; C480079:ALAS2 protein, human