αβ复合型珠蛋白生成障碍性贫血的发生率及基因检测

目的研究广西钦州地区人群的αβ复合珠蛋白生成障碍性贫血的发生率及基因检测,以了解其检出情况及基因分布状况。方法应用单管多重聚合酶联反应(PCR)技术进行常见3种α缺失型基因检测以及反向点杂交法检测中国人常见的17种位点β-珠蛋白生成障碍性贫血(简称β-地贫)。结果 250例β-地贫杂合子中有39例复合缺失型α-珠蛋白生成障碍性贫血(α-地贫),占15.60%。其中β-地贫杂合子合并(--SEA/αα)α地贫24例(9.6%);合并(-α3.7/αα)α地贫10例(4%),合并(-α4.2/αα)α地贫4例(1.6%),合并(--SEA/-α4.2)α地贫1例(0.4%)。检出39例β-地贫基因突变类型共有8种,分别为41-42(TCTT)、TATAbox 28(A→G)、CD17(A→T)、IVSⅡ654(C→T)、CD71-72(+A)、βE(G→A)、CD43(G→T)及IVS1-1(G→T)。结论采用PCR技术可以有效减少αβ复合珠蛋白生成障碍性贫血漏检的可能,对杜绝重珠蛋白生成障碍性贫血儿童的出生和提高人口素质具有重要的意义。

Incidence and genetic test of aB-thalassemia

Objective This study was aimed to investigate the incidence and genetic test of aβ-thalassemia in Qinzhou area to understand their detection and gene distribution. Methods Three common deletions of a-thalassemia were detected by using gapPCR and 1713-thalassemia mutation was detected by reverse dot blot （RDB）. Results The results indicated that 39 cases from the 250 β-thalassemia traits were found to be the compound heterozygosity for β- thalassemia and a-thalassemia with 15.6 % detection rate. There were 8 different types of gene defects. There were 24 cases （9.6 %） of ]3-thalassemia heterozygote combining a-thalassemia-gene （ -SEA/as）, 10 cases （4 %） combining with a-thalassemia-gene （ -a3.7/aa）, including 4 cases （1. 6%） （ -a4.2/aa）, and 1 case （0. 4） combining with HbH gene （ SEA/_ 4. z）. In the 39 heterozygotes,8 types mutation were as follow：41-42（TCTT）,TATAbox 28（A →G）,CD17（A→T）,IVS II 654（C→T）,CD71-72（＋A）,I3E （G→A）,CD43 （G→T） and IVSI-1 （G→T）. Conclusion It is concluded that the incidence of ]3-thalassemia heterozygotes combining with deletional a-thalassemia is frequent in Qinzhou city. The hematological analysis can not give specificity for diagnosing these dual heterozy- gotes. GapPCR as a routine method for thalassemia screening has the advantages in reducing the possibility of failing to detect theaβ-thalassemia. It is more useful to prevent severe thalassemia on the birth of children, and to improve the quality of the population is of great significance.