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

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

扫码查看
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 hemo-globin 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 vari-ous 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 electro-phoresis can help identify phenotypic differences and provide clinical consultation as a reference.

hemoglobin Constant Springalpha-thalassemiabeta-thalassemiaHbA2hemoglobin electrophoresis

冉健、胡亮、朱绪杰、朱雁媚、刘维强

展开 >

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

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

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项目

LGKCZSYS2018000010

2024

中国优生与遗传杂志
中国优生科学协会

中国优生与遗传杂志

CSTPCD
影响因子:0.527
ISSN:1006-9534
年,卷(期):2024.32(3)
  • 3