%0 Journal Article
%T A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man.
%A Huang J
%A Ge M
%A Shao Y
%A Wang M
%A Jin P
%A Huo J
%A Li X
%A Zhang J
%A Nie N
%A Zheng Y
%J BMC Med Genomics
%V 14
%N 1
%D Apr 2021 15
%M 33858445
%F 3.622
%R 10.1186/s12920-021-00950-x
%X 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.<BR>A two-generation Chinese family with XLSA was studied by next-generation sequencing to identify the underlying CSA-related mutations.<BR>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.<BR>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.