Early Onset of Severe Anemia Caused by Hb Calgary (HBB: C.194G > T): Another Case Report

被引：0
|
作者：
Jiang, Hua [1 ]
Li, Dong-Zhi [2 ]
机构：
[1] Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Dept Hematol Oncol, Guangzhou, Guangdong, Peoples R China
[2] Guangzhou Med Univ, Prenatal Diagnost Ctr, Guangzhou Women & Childrens Med Ctr, Jinsui Rd 9, Guangzhou, Guangdong, Peoples R China
来源：
HEMOGLOBIN | 2024年 / 48卷 / 02期
关键词：
Hemoglobinopathies; Hb Calgary; hemolytic anemia; unstable hemoglobin (Hb); J CALABRIA;
D O I：
10.1080/03630269.2024.2315188
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：
Unstable hemoglobin (Hb) variants are a rare cause of congenital hemolytic anemia. We describe a Chinese girl who presented with transfusion-dependent anemia in early infancy. Her diagnosis of Hb Calgary [beta 64(E8)Gly > Val; HBB:c.194G > T] was not made until molecular testing was performed at the age of 5 years. Our case highlights the importance of early genetic testing in order to make the diagnosis, which may not only be useful for patient management and family counseling, but also for avoiding further unnecessary investigative attempts.
引用
收藏
页码：118 / 120
页数：3
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