Molecular characterization of thalassemia and hemoglobinopathy in Southeastern China

被引：61

作者：

Huang, Hailong ^{[1
]}

Xu, Liangpu ^{[1
]}

Chen, Meihuan ^{[1
]}

Lin, Na ^{[1
]}

Xue, Huili ^{[1
]}

Chen, Lingji ^{[1
]}

Wang, Yan ^{[1
]}

He, Deqin ^{[1
]}

Zhang, Min ^{[1
]}

Lin, Yuan ^{[1
]}

机构：

[1] Fujian Med Univ, Fujian Prov Key Lab Prenatal Diag & Birth Defect, Prenatal Diag Ctr Fujian Prov, Matern & Childrens Hosp,Affiliated Hosp, Fuzhou 350001, Fujian, Peoples R China

来源：

SCIENTIFIC REPORTS | 2019年 / 9卷 / 1期

关键词：

BETA-THALASSEMIA; ALPHA-THALASSEMIA; POPULATION; SPECTRUM; DELETION; PROVINCE;

D O I：

10.1038/s41598-019-40089-5

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Thalassemia and hemoglobinopathy are two common inherited disorders, which are highly prevalent in southern China. However, there is little knowledge on the genotypes of thalassemia and hemoglobinopathy in Southeastern China. In this study, we present a large-scale genetic detection and molecular characterization of thalassemia and hemoglobinopathy in Fujian province, Southeastern China. A total of 189414 subjects screened for thalassemia were recruited, and the hemoglobin components and levels were investigated. Furthermore, suspected common thalassemia was identified, and the suspected rare forms of common thalassemias and hemoglobinopathy were detected. Among the total subjects screened, the overall prevalence of thalassemia and hemoglobinopathy was 6.8% and 0.26%, and rare alpha-thalassemia genotypes HK alpha alpha, -(THAI)/alpha alpha and alpha(27.6)/alpha alpha, and novel beta-thalassemia gene mutations CD90(G -> T) and IVS-I-110(G >A) were identified. Additionally, Hb Q-Thailand hemoglobinopathy and five other types of hemoglobinopathies (Hb NewYork, Hb J-Bangkok, Hb G-Taipei, Hb G-Coushatta and Hb Maputo) were found. The results of this 10-year large-scale study demonstrate high prevalence of thalassemia with complicated gene mutations in Southeastern China, which provides valuable baseline data for genetic counseling and prenatal diagnosis. In addition to detection of common thalassemia genes, detection of rare thalassemia genotypes and hemoglobinopathies is recommended.

引用

页数：9

共 39 条

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