Article
[A case with α-thalassemia caused by novel start codon variant in conjunct with right deletion variant of α2-globin gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2021
Chen Yang, Wang Jie, Wang Chan, Chen Shiping, Feng Nyu, Liu Haifang, Tang Xiaoyan, Zhang Shufang
Abstract excerpt
OBJECTIVE: The explore the genetic basis for a patient with microcytic hypochromic anemia and iron deficiency anemia. METHODS: Common deletions and variants of the globin genes were detected by Gap-PCR and next generation sequencing (NGS). Suspected mutations were verified by Sanger sequencing. RESULTS: Gap-PCR and NGS showed that the proband has carried a αα/-α 3.7 deletion and a heterozygous c.2T>A (p.Met1Lys)...
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