BMC Medical Genomics (Apr 2021)

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

  • Jinbo Huang,
  • Meili Ge,
  • Yingqi Shao,
  • Min Wang,
  • Peng Jin,
  • Jiali Huo,
  • Xingxin Li,
  • Jing Zhang,
  • Neng Nie,
  • Yizhou Zheng

DOI
https://doi.org/10.1186/s12920-021-00950-x
Journal volume & issue
Vol. 14, no. 1
pp. 1 – 5

Abstract

Read online

Abstract Background 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. Methods A two-generation Chinese family with XLSA was studied by next-generation sequencing to identify the underlying CSA-related mutations. Results 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. Conclusions 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.

Keywords