一个 ALAS2 基因中的 p.R204Q 杂合突变导致了一个成年汉族男性的 X 连锁铁幼粒细胞性贫血。
A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man.
机构信息
State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Science and Peking Union Medical College, 288 Nanjing Road, Tianjin, 300020, People's Republic of China.
出版信息
BMC Med Genomics. 2021 Apr 15;14(1):107. doi: 10.1186/s12920-021-00950-x.
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.
背景
X 连锁铁幼粒细胞性贫血（XLSA）是最常见的先天性铁幼粒细胞性贫血（CSA）形式，与 5-氨基酮戊酸合酶 2（ALAS2）的突变有关。超过 40%的 CSA 病例的遗传基础尚不清楚。
方法
通过下一代测序对一个具有 XLSA 的中国两代表亲家庭进行研究，以确定潜在的 CSA 相关突变。
结果
在本研究中，我们在一个杂合子中国汉族男性及其杂合子女儿中发现了一个错义 ALAS2 R204Q 突变。该男性先证者在 38 岁时出现临床表现，对吡哆醇反应良好。
结论
XLSA 作为一种遗传性疾病，其临床表现可能会在以后出现，对于出现环形铁幼粒细胞和低色素性贫血的成年男性患者，应进行基因分析以排除 CSA。
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