科研之友
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摘要
An elevated Hb A(2) (22 level) is a diagnostic marker for heterozygous -thalassemia (-thal). Mutations in the -globin gene can cause decreased expression of Hb A(2), compromising screening for heterozygous -thal. In this report, we describe a novel missense mutation of the -globin [Hb A(2)-Fengshun or 121(GH4)GluLys, HBD: c.364G>A] in a Chinese individual who had coinherited a heterozygous -thal with a normal Hb A(2) level.
- 出版日期2016-6
- 单位广州市妇女儿童医疗中心; 广州医科大学
