A Rare Case of Abnormal Hemoglobin Variant Hb Mizuho: [HBB: c.206T > C β 68(E12) Leu-Pro]: A First Report in the Chinese Population

被引：5
作者：
Chen, Ya-ping [1 ,2 ]
Wu, Peng [3 ]
Wang, Heng [1 ]
Wu, Jiang-fen [4 ]
Xie, Dan [4 ]
Wang, Lei [4 ]
An, Bangquan [5 ]
Huang, Sheng-wen [1 ,3 ,6 ]
机构：
[1] Guizhou Med Univ, Coll Med Lab, Guiyang, Guizhou, Peoples R China
[2] Second Peoples Hosp Guiyang, Dept Clin Lab, Guiyang, Guizhou, Peoples R China
[3] Guizhou Prov Peoples Hosp, Dept Med Genet, Guiyang, Guizhou, Peoples R China
[4] Guizhou Univ, Med Coll, Guiyang, Guizhou, Peoples R China
[5] Guizhou Prov Peoples Hosp, Dept Blood Transfus, Guiyang, Guizhou, Peoples R China
[6] Guizhou Prov Peoples Hosp, Dept Med Genet, 83 East Zhongshan Rd, Guiyang 550002, Guizhou, Peoples R China
来源：
HEMOGLOBIN | 2023年 / 47卷 / 03期
关键词：
Hb Mizuho; abnormal hemoglobin; hemolytic anemia; next-generation sequencing; Sanger sequencing; GUIZHOU PROVINCE; SPLENECTOMY; THALASSEMIA; SPECTRUM;
D O I：
10.1080/03630269.2023.2231851
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：
A 6-month-old female infant presented with unexplained hemolytic anemia, showing no abnormalities by capillary electrophoresis and genetic testing for & alpha;- and & beta;-thalassemia mutations that are commonly seen in the Chinese population. A rare Hb Mizuho: [HBB: c.206T > C & beta; 68(E12) Leu- Pro] variant was identified by next-generation sequencing (NGS) and verified by Sanger sequencing. Hb Mizuho: [HBB: c.206T > C & beta; 68(E12) Leu- Pro] is not easily detectable because it is extremely unstable, and the correct diagnosis is usually made via DNA sequencing. This is the first report of this variant in the Chinese population.
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收藏
页码：130 / 134
页数：5
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