Hb Alesha [β67( E11) Val→Met (GTG> ATG); HBB: c. 202G> A] Found in a Chinese Girl

被引：3
|
作者：
Jiang, Hua [1 ]
Yan, Jin-Mei [2 ]
Zhou, Jian-Ying [2 ]
Li, Dong-Zhi [2 ]
机构：
[1] Guangzhou Med Univ, Guangzhou Women & Children Med Ctr, Dept Hematol Oncol, Guangzhou, Guangdong, Peoples R China
[2] Guangzhou Med Univ, Guangzhou Women & Children Med Ctr, Prenatal Diagnost Ctr, Guangzhou, Guangdong, Peoples R China
来源：
HEMOGLOBIN | 2016年 / 40卷 / 06期
基金：
中国国家自然科学基金;
关键词：
Hb Alesha; hemolytic anemia; unstable hemoglobin; HEMOGLOBIN BRISTOL;
D O I：
10.1080/03630269.2016.1273233
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Mutations that cause destabilization of the hemoglobin (Hb) tetramer are a rare cause of hemolytic anemia. In contrast to the hemolytic anemia caused by enzyme deficiencies, a dominant mode of inheritance characterizes the unstable Hbs. Hb Alesha [beta 67(E11) Val -> Met; HBB: c.202G> A] is caused by a G> A mutation at codon 67 of the beta-globin gene, resulting in a valine to methionine substitution at helix E11. This replacement disrupts the apolar bonds between valine and the heme group, producing an unstable Hb and severe hemolysis. We report this rare hemoglobinopathy in a Chinese girl with severe hemolytic anemia, splenomegaly and frequent requirement for red blood cell (RBC) transfusions.
引用
收藏
页码：420 / 421
页数：2
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