[Association Analysis between Genotype and Phenotype of α,β-Thalassaemia Carriers in Huizhou Area of Guangdong Province].

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 --SEA/ αα, βCD41-42/ βN (19.29%), the next was --SEA/ αα, βIVS-II-654/ βN (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.广东惠州人群αβ复合型地中海贫血基因型与表型的相关性分析.分析惠州地区αβ复合型地中海贫血（简称“地贫”）的发生率、基因型分布及血液学特征。.选择经检测确诊为单纯β-地贫携带者10809例和αβ复合型地贫携带者1 757例作为研究对象，使用血细胞分析仪和全自动毛细管电泳仪检测相应的血液学指标，采用悬浮阵列技术、跨越断裂点聚合酶链反应（gap-PCR)技术以及PCR-反向斑点杂交技术进行地贫基因分型检测。.广东惠州地区人群αβ复合型地贫发生率为1.99%，共检出62种基因型，以基因型--SEA/ αα, βCD41-42/ βN分布最多（19.29%），--SEA/ αα, βIVS-II-654/ βN次之（16.73%）。研究发现单纯β-地贫携带者与αβ复合型地贫携带者各基因型分组间平均红细胞体积（MCV）和平均红细胞血红蛋白含量 （MCH）均有显著性差异，小提琴图提示，当β-地贫复合轻型α-地贫时，其表型最轻缓，复合血红蛋白H（Hb H）病时，表型最严重。.广东惠州地区αβ复合型地贫发生率高，且缺乏特异性血液学指标，临床上需通过α-地贫和β-地贫基因检测与单纯β-地贫相鉴别，以便正确指导遗传咨询及产前诊断。.