Severe Hb H Disease Caused by Hb Zurich-Albisrieden (HBA1: c.178G>C): Another Case Report

被引：0
|
作者：
Wu, Shao-Min [1 ]
Huang, Su-Ran [1 ]
Li, Chan [1 ]
Chen, Gui-Lan [2 ]
Li, Dong-Zhi [2 ,3 ]
机构：
[1] Southern Med Univ, Affiliated Dongguan Hosp, Dongguan Peoples Hosp, Prenatal Diag Ctr, Dongguan, Guangdong, Peoples R China
[2] Guangzhou Med Univ, Prenatal Diagnost Ctr, Guangzhou Women & Childrens Med Ctr, Guangzhou, Guangdong, Peoples R China
[3] Guangzhou Med Univ, Prenatal Diagnost Ctr, Guangzhou Women & Childrens Med Ctr, Jinsui Rd 9, Guangzhou, Guangdong, Peoples R China
来源：
HEMOGLOBIN | 2022年 / 46卷 / 06期
关键词：
alpha-Thalassemia (alpha-thal); Hb H disease; Hb Zurich-Albisrieden; Hb variant; COMPOUND HETEROZYGOSITY;
D O I：
10.1080/03630269.2023.2165444
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：
Hb Zurich-Albisrieden, [alpha 59(E8)Gly & RARR;Arg, HBA1: c.178G > C] is a rare and highly unstable alpha-globin chain variant. The involved mutation has been reported in both HBA1 and HBA2 genes. A few compound heterozygotes of Hb Zurich-Albisrieden and alpha(0)-thalassemia have shown that this variant is associated with severe Hb H disease. We describe here another case of Hb Zurich-Albisrieden who presented with transfusion-dependent anemia beginning shortly after birth.
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收藏
页码：341 / 343
页数：3
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