微细胞增多
分子生物学
基因分型
化学
生物
遗传学
基因
贫血
医学
内科学
基因型
缺铁
作者
Shir-Ying Lee,Jia-Hui Goh,Karen Tan,Te-Chih Liu
出处
期刊:Hemoglobin
[Informa]
日期:2017-05-04
卷期号:41 (3): 209-212
标识
DOI:10.1080/03630269.2017.1351986
摘要
Hb Helsinki [HBB: c.248A>T; β82(EF6)Lys→Met] is a high oxygen affinity hemoglobin (Hb) causing polycythemia, whereas Hb H (β4) disease causes mild to severe chronic hemolytic anemia. The clinical characteristics, gel electrophoresis, capillary electrophoresis (CE) and molecular genotyping of a case of Hb Helsinki coinherited with Hb H disease in an ethnic Malay is described, illustrating the interaction between the β-globin variant and coinheritance of three α gene deletions. The proband was asymptomatic, exhibited microcytosis and a normal with Hb value.
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