A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man.

Research paper by Jinbo J Huang, Meili M Ge, Yingqi Y Shao, Min M Wang, Peng P Jin, Jiali J Huo, Xingxin X Li, Jing J Zhang, Neng N Nie, Yizhou Y Zheng

Indexed on: 17 Apr '21Published on: 17 Apr '21Published in: BMC Medical Genomics


X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia (CSA), and is associated with the mutations in the 5-aminolevulinate synthase 2 (ALAS2). The genetic basis of more than 40% of CSA cases remains unknown. A two-generation Chinese family with XLSA was studied by next-generation sequencing to identify the underlying CSA-related mutations. In the study, we identified a missense ALAS2 R204Q mutation in a hemizygous Chinese Han man and in his heterozygous daughter. The male proband presented clinical manifestations at 38 years old and had a good response to pyridoxine. XLSA, as a hereditary disease, can present clinical manifestations later in lives, for adult male patients with ringed sideroblasts and hypochromic anemia, it should be evaluated with gene analyses to exclude CSA.

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