广西地区323例血红蛋白Constant Spring基因型与表型分析  

Analysis of the phenotype-genotype relationship in 323 Hb Constant Spring carriers

作　　者：韦媛 李东明 何升 张强 唐燕青 陈秋莉 郑陈光 

机构地区：[1]广西壮族自治区妇产医院,妇幼保健院遗传代谢中心实验室,南宁530003

出　　处：《中国优生与遗传杂志》2014年第10期27-29,共3页Chinese Journal of Birth Health & Heredity

基　　金：广西卫生厅重点课题(Z2012020);国家自然科学基金(81260093);十二五国家科技支撑项目子项目(2012BAI09B00)

摘　　要：目的探讨血红蛋白Constant Spring（Hb CS）携带者基因型和表型的关系。方法检测HbCS携带者的血常规和血红蛋白电泳,通过跨越断裂点PCR（gap—PCR）和反向点杂交方法检测α和β地中海贫血基因。结果 Hb CS杂合子和Hb CS复合α-地贫对表型影响较小,Hb CS纯合子和Hb CS合并--SEA/αα表现为Hb H病特征,对表型影响明显,Hb CS杂合子复合轻型β-地贫表现为β-地贫表型。Hb CS杂合子Hb CS带含量较低,Hb CS纯合子或Hb CS复合--SEA时Hb CS含量高达为1.6-5.5%,当其合并β-地贫时也有较高的Hb CS含量。Hb CS-H病复合β-地贫时不能电泳出Hb H带。结论 Hb CS可通过血红蛋白电泳进行筛查,当Hb CS杂合子与其他类型地贫复合时,可呈现不同临床表型,此类复合地贫仅用血液学与表型筛查易漏检,需要通过基因检测进行确诊。Objective： To analyze the genotype-phenotype correlations in the Hb Constant Spring （HbCS） carriers. Methods： Complete blood cell count and Sebia Capillarys 2 capillary electrophoresis were performed in 323 HbCS cases. Gap polymerase chain reaction （Gap-PCR） and reverse dot-blotting were used to determine the α-and β-thalassemia mutations. Results： The presence of the SEA deletion with HbCS leads to HbH-CS H disease. There was significant difference between HbH- CS and αcs α/-α, HbH-CS and ctcs α/α α in the hematological parameters. The genotype of αcs α/-α or αcs α/αct had slight effect on hematological parameters. When the Hb Constant Spring mutation co-existed with heterozygous β-thalassemia, the hematological characteristics of β-thalassemia was presented. Hb CS contents werelower in the heterozygotes Hb CS sample than that in the Hb CS homozygote or Hb H-CS samples, which the latters＇ contents reached to 1.6~5.5%. The Hb CS contents also were high in the HbH-CS and β-thalassmia compound sample, while HbH was not detected in these samples.Conclusions： The cases with co- existence of HbCS trait and other α-thalassemia trait, or β-thalassemia trait, showed variation in their red blood cell parameters. For such compound heterozygotes for HbCS and otheret-α β-thalassaemia mutations, which were usually misdiagnosed in clinical screening by hemoglobin electrophoresis, accurate diagnose can be made by molecular diagnosis.

关 键 词：血红蛋白 地中海贫血 HB CONSTANT SPRING 筛查 基因型与表型 

分 类 号：R556.61[医药卫生—血液循环系统疾病]