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Abstract：
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.
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.
摘要：
X连锁铁粒母细胞性贫血（XLSA）是最常见的先天性铁粒母细胞性贫血（CSA），并且与5-氨基乙酰丙酸合酶2（ALAS2）中的突变有关。超过40％的CSA病例的遗传基础仍然未知。
通过下一代测序研究了具有XLSA的两代中国家族，以鉴定潜在的CSA相关突变。
在研究中,我们在一名半合子的中国汉族男性及其杂合女儿中发现了一个错义ALAS2R204Q突变。男性先证者在38岁时出现临床表现，对吡哆醇反应良好。
XLSA,作为一种遗传性疾病,可以在以后的生活中出现临床表现，对于患有环状铁皮母细胞和低色素性贫血的成年男性患者，应通过基因分析进行评估以排除CSA.
通过下一代测序研究了具有XLSA的两代中国家族，以鉴定潜在的CSA相关突变。
在研究中,我们在一名半合子的中国汉族男性及其杂合女儿中发现了一个错义ALAS2R204Q突变。男性先证者在38岁时出现临床表现，对吡哆醇反应良好。
XLSA,作为一种遗传性疾病,可以在以后的生活中出现临床表现，对于患有环状铁皮母细胞和低色素性贫血的成年男性患者，应通过基因分析进行评估以排除CSA.
