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

BMC Medical Genomics

Yizhou Zheng¹  Xingxin Li¹  Meili Ge¹  Neng Nie¹  Jing Zhang¹  Min Wang¹  Jiali Huo¹  Yingqi Shao¹  Peng Jin¹  Jinbo Huang¹ 

[1] 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, 300020, Tianjin, People’s Republic of China;

关键词: ALAS2;    X-linked sideroblastic anemia;    Hemizygous;   

DOI  :  10.1186/s12920-021-00950-x

来源: Springer

【 摘 要 】

BackgroundX-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.MethodsA two-generation Chinese family with XLSA was studied by next-generation sequencing to identify the underlying CSA-related mutations.ResultsIn 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.ConclusionsXLSA, 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.

【 授权许可】

CC BY