Progress of study on sideroblastic anemia and its possible gene therapy--review / 中国实验血液学杂志

ABSTRACT

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.