分析Constant Spring基因携带者血液学表型与不同基因型的关系  

The hematological phenotypes of carriers with hemoglobin Constant Spring

作　　者：冉健 胡亮 朱绪杰 朱雁媚 刘维强 RAN Jian;HU Liang;ZHU Xujie;ZHU Yanmei;LIU Weiqiang(Longgang District Maternity&Child Healthcare Hospital of Shenzhen City,Longgang Maternity and Child Institute of Shantou University Medical College,Shenzhen,Guangdong 518172,China)

机构地区：[1]深圳市龙岗区妇幼保健院/汕头大学医学院龙岗妇幼临床学院,广东深圳518172

出　　处：《中国优生与遗传杂志》2024年第3期508-511,共4页Chinese Journal of Birth Health & Heredity

基　　金：区级重点实验室认定扶持-龙岗区出生缺陷预防重点实验室(LGKCZSYS2018000010)。

摘　　要：目的分析血红蛋白Constant Spring(HbCS)携带者的血液学表型,比较不同HbCS基因型携带者的表型特征。方法回顾性分析近10年在深圳市龙岗区妇幼保健院中心实验室通过地贫基因检测确诊携带HbCS的患者,并收集到其血常规和血红蛋白电泳相关指标的结果,共507例。计算不同基因型携带者Hb、MCV、MCH等指标的中位数或均值,并与缺失型α-地贫患者相应指标进行比较,统计各组患者的血液学表型是否具有统计学差异。结果通过毛细管血红蛋白电泳技术,在69.0%(350/507)的HbCS基因携带者中检测到HbCS带。HbCS基因携带者与缺失型α-地贫基因携带者的血液学表型有统计学差异。结论不同HbCS基因型携带者血液学表型的部分指标有显著差异,通过毛细管电泳检测HbCS组分,可帮助判断表型差异,为临床咨询提供参考依据。Objectives The purpose of this study is to examine the hematological phenotypes of carriers with hemoglobin Constant Spring(HbCS)and to compare the phenotypes of carriers with various HbCS genotypes.Methods Blood routine and hemoglobin electrophoresis results were collected from 507 patients with HbCS confirmed by thalassemia gene detection in our laboratory during the past 10 years.The median or mean values of Hb,MCV,and MCH of carriers with various genotypes were calculated and compared with the respective indices from patients with deletional alpha-thalassemia.Each group’s hematological phenotypes were statisticallydistinct.Results By capillary hemoglobin electrophoresis,HbCS bands were detected in 69.0%(350/507)of HbCS gene carriers.The statistical significance of the hematologic phenotypes of HbCS gene carriers and alpha-thalassemia gene-deficient carriers was established.Conclusion Some hematological phenotypes of HbCS carriers with distinct genotypes exhibit significant differences.Detection of HbCS components via capillary electrophoresis can help identify phenotypic differences and provide clinical consultation as a reference.

关 键 词：血红蛋白Constant Spring Α-地中海贫血 Β-地中海贫血 HBA2 血红蛋白电泳 

分 类 号：R556.61[医药卫生—血液循环系统疾病] R440[医药卫生—内科学]