First Report of a Chinese Family Carrying a Double Heterozygosity for Hb Q-Thailand and Hb J-Bangkok

被引：7
作者：
Jiang, Fan [1 ,2 ]
Zhou, Jian-Ying [1 ,2 ]
Yan, Jin-Mei [1 ,2 ]
Lu, Yue-Cheng [1 ,2 ]
Li, Dong-Zhi [1 ,2 ]
机构：
[1] Guangzhou Med Univ, Guangzhou Women & Children Med Ctr, Prenatal Diagnost Ctr, Guangzhou, Guangdong, Peoples R China
[2] Guangzhou Med Univ, Guangzhou Women & Children Med Ctr, Dept Obstet & Gynecol, Guangzhou, Guangdong, Peoples R China
来源：
HEMOGLOBIN | 2016年 / 40卷 / 06期
关键词：
Capillary electrophoresis (CE); double heterozygous state; Hb J-Bangkok; Hb Q-Thailand; HEMOGLOBIN-VARIANTS; THALASSEMIA;
D O I：
10.1080/03630269.2016.1274660
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：
The double heterozygosity for alpha and beta chain variants leads to the formation of abnormal heterodimer hybrids, which could render laboratory diagnostics in a routine setting difficult. The following is the first report of a double heterozygosity for Hb Q-Thailand [alpha 74(EF3) Asp -> His; HBA1: c. 223G> C] with alpha(+) thalassemia (alpha(+) thal) and Hb J- Bangkok [beta 56(D7) Gly -> Asp; HBB: c. 170G> A] found in a Chinese family. Both subjects were healthy with normal or borderline hematological parameters. Hemoglobin (Hb) analyses showed a novel variant, Hb Q- Thailand and Hb J- Bangkok. Family studies helped in the initial recognition and in making presumptive diagnoses, but definitive diagnoses of these cases with complex a and b chain variants could only be obtained after DNA analysis.
引用
收藏
页码：425 / 427
页数：3
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