Complex Interaction of Hb Q-Thailand with 0- and 0-Thalassemia in a Chinese Family

被引：2
|
作者：
He, Sheng [1 ]
Qin, Qian [2 ]
Lin, Li [1 ]
Chen, Qiuli [1 ]
Yi, Shang [1 ]
Wei, Honhwei [1 ]
Du, Juan [1 ]
Zheng, Chenguang [1 ]
Qiu, Xiaoxia [1 ]
Chen, Biyan [1 ]
机构：
[1] Guangxi Zhuang Autonomous Reg Women & Children Ca, Prenatal Diagnost Ctr, 59 Xiangzhu Rd, Nanning 530012, Peoples R China
[2] Baise Women & Children Care Hosp, Prenatal Diagnost Ctr, Baise, Guangxi, Peoples R China
来源：
HEMOGLOBIN | 2017年 / 41卷 / 01期
关键词：
(0)-Thalassemia ((0)-thal); (0)-thalassemia ((0)-thal); genetic counseling; hemoglobinopathies; Hb Q-Thailand; HEMOGLOBIN-VARIANTS; DOUBLE HETEROZYGOTE; BETA-THALASSEMIA; ALPHA(0)-THALASSEMIA; ASSOCIATION; DISEASE;
D O I：
10.1080/03630269.2017.1295985
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 Q-Thailand [74(EF3)AspHis (1); HBA1: c.223G>C] is an abnormal hemoglobin (Hb), variant found mainly in China and Southeast Asian countries. The association of the (Q)-Thailand allele with other globin gene disorders has important implications in diagnosis. Here, we report a hitherto undescribed condition of patients with a double heterozygosity for Hb Q-Thailand with (0)-thalassemia ((0)-thal) and in combination with (0)-thalassemia ((0)-thal) in a Chinese family. Our study will provide some clinical manifestations, laboratory diagnosis and genetic counseling for complex hemoglobinopathies.
引用
收藏
页码：68 / 72
页数：5
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