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  

Association Analysis between Genotype and Phenotype ofα,β-Thalassaemia Carriers in Huizhou Area of Guangdong Province

作　　者：陈迪娜 官志扬 钟泽艳 贺海林 钟国兴 吴志勇 陈剑虹 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)

机构地区：[1]惠州市第一妇幼保健院医学遗传与产前诊断科,广东惠州516007

出　　处：《中国实验血液学杂志》2023年第4期1133-1137,共5页Journal of Experimental Hematology

基　　金：惠州市科技计划(医疗卫生)项目(2021WC0106208)。

摘　　要：目的: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。方法: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1757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。结果: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。结论: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。Objective:To analyze the prevalence,genotype distribution and hematological characteristics ofα,β-thalassaemia carriers in Huizhou area of Guangdong Province.Methods:10809 carriers of simpleβ-thalassaemia and 1757 carriers ofα,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.Results:The prevalence ofα,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 simpleβ-thalassaemia andα,β-thalassaemia.Violin plots showed that carriers with co-inheritance ofβ-thalassaemia and mildα-thalassaemia expressed the lightest anemia,and carriers with co-inheritance ofβ-thalassaemia and hemoglobin H(Hb H)disease expressed the most severe anemia.Conclusion:There is a high prevalence ofα,β-thalassaemia in Huizhou area of Guangdong Province.Because of the lack of specific hematological makers for diagnosis ofα,β-thalassaemia,it is necessary to distinguish it from simpleβ-thalassaemia by genotyping ofα-andβ-thalassaemia in order to correctly guide genetic counseling and prenatal disgnosis.

关 键 词：αβ复合型地中海贫血 基因型 血液学特征 惠州地区 

分 类 号：R556.61[医药卫生—血液循环系统疾病]