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

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.

SUBMITTER: Huang J

PROVIDER: S-EPMC8048311 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature

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

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

BMC medical genomics 20210415 1

<h4>Background</h4>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.<h4>Methods</h4>A two-generation Chinese family with XLSA was studied by next-generation sequencing to identify the underlying CSA-related mutations.<h4>Results</h4>In the study, we identified a missense ALAS2 R204Q mutation in a he ...[more]

PMID: 33858445

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