Chen Di-Na, Guan Zhi-Yang, Zhong Ze-Yan, He Hai-Lin, Zhong Guo-Xing, Wu Zhi-Yong, Chen Jian-Hong
Department of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou 516007, Guangdong Province, China.
Department of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou 516007, Guangdong Province, China.E-mail:
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2023 Aug;31(4):1133-1137. doi: 10.19746/j.cnki.issn.1009-2137.2023.04.031.
To analyze the prevalence, genotype distribution and hematological characteristics of α,β-thalassaemia carriers in Huizhou area of Guangdong Province.
10 809 carriers of simple β-thalassaemia and 1 757 carriers of α,β-thalassaemia were enrolled as our study cohort. The hematological parameters were detected by automated blood cell counters and automatic capillary electrophoresis. Suspension array technology, gap-polymerase chain reaction (gap-PCR) and PCR-reverse dot blot were used for the genotyping of thalassaemia carriers.
The prevalence of α,β-thalassaemia in Huizhou area of Guangdong Province was 1.99%. A total of 62 genotypes were detected, and the most prevalent genotype was --/ , / (19.29%), the next was --/ , / (16.73%). Significant differences in mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) were found between different genotype groups for simple β-thalassaemia and α,β-thalassaemia. Violin plots showed that carriers with co-inheritance of β-thalassaemia and mild α-thalassaemia expressed the lightest anemia, and carriers with co-inheritance of β-thalassaemia and hemoglobin H (Hb H) disease expressed the most severe anemia.
There is a high prevalence of α,β-thalassaemia in Huizhou area of Guangdong Province. Because of the lack of specific hematological makers for diagnosis of α,β-thalassaemia, it is necessary to distinguish it from simple β-thalassaemia by genotyping of α- and β-thalassaemia in order to correctly guide genetic counseling and prenatal disgnosis.
分析广东省惠州市地区α、β地中海贫血携带者的患病率、基因型分布及血液学特征。
选取10809例单纯β地中海贫血携带者和1757例α、β地中海贫血携带者作为研究队列。采用自动血细胞计数仪和自动毛细管电泳检测血液学参数。运用悬浮芯片技术、缺口聚合酶链反应（gap-PCR）和PCR反向斑点杂交技术对地中海贫血携带者进行基因分型。
广东省惠州市地区α、β地中海贫血的患病率为1.99%。共检测到62种基因型，最常见的基因型是--/ ， / （19.29%），其次是--/ ， / （16.73%）。单纯β地中海贫血和α、β地中海贫血不同基因型组之间的平均红细胞体积（MCV）和平均红细胞血红蛋白含量（MCH）存在显著差异。小提琴图显示，β地中海贫血与轻度α地中海贫血共遗传的携带者贫血程度最轻，β地中海贫血与血红蛋白H（Hb H）病共遗传的携带者贫血程度最重。
广东省惠州市地区α、β地中海贫血患病率较高。由于缺乏诊断α、β地中海贫血的特异性血液学指标，有必要通过α、β地中海贫血基因分型将其与单纯β地中海贫血区分开来，以便正确指导遗传咨询和产前诊断。
