绵阳城区孕妇α-地中海贫血缺失型基因分析  

Analysis of the Genotype Absence of Pregnant Women with Alpha Thalassaemia in Mianyang City

作　　者：彭碧[1] 刘燕燕[2] 冯建军[3] 吕禄苹 张克英[3] 

机构地区：[1]绵阳市人民医院检验科,四川绵阳621000 [2]绵阳市人民医院产科,四川绵阳621000 [3]绵阳市人民医院血液科,四川绵阳621000

出　　处：《四川医学》2014年第10期1272-1275,共4页Sichuan Medical Journal

基　　金：四川省科技厅攻关基金课题(编号:05SGD22-088)

摘　　要：目的研究四川省绵阳城区孕妇α-地中海贫血(简称α-地贫)缺失型基因的构成情况、临床表现及相关实验室检查,探讨产前实验室筛查及基因诊断在α-地贫中的应用价值,为降低该地区α-地贫发病率,防止重型地贫患儿出生提供参考。方法对基因确诊的137例α-地贫孕妇的缺失型基因类型结合临床表现进行分类,并收集同期经基因诊断为非地贫的30例缺铁性贫血(IDA)孕妇及30例正常孕妇血样,比较三组的血常规参数、血红蛋白电泳(HbA2)及红细胞孵育渗透脆性试验(MDST)结果,并进行统计学分析。结果 137例缺失型α-地贫孕妇中,共发现5种基因型:--SEA/αα110例,-α3.7/αα20例,-α4.2/αα2例,-α3.7/--SEA4例,-α4.2/--SEA1例;地贫组的血常规参数出现RBC增高而MCV和MCH降低的特征性改变,各参数在地贫组与正常对照组除RDW外差异均有统计学意义(P<0.01);地贫组与IDA组除RDW、MCHC外差异均有统计学意义(P<0.01);地贫组和IDA组的Hb、MCV、MCH及HbA2等参数的鉴别诊断性能结果比较,除HbA2差异均无统计学意义(P>0.05)。结论绵阳城区孕妇α-地贫以--SEA/αα最常见,MCV、MCH及Hb电泳作为地贫筛查指标,联合应用,可提高地贫产前筛查阳性率,但必须结合基因诊断的方法,才能实现广泛的地贫筛查和诊断。Objective To study the clinical application value of laboratory examination and genetic diagnosis about alpha thalassaemia,by ana-lyzing the genotype absence of pregent women with alpha thalassaemia in Mianyang city,so as to reduce the incidence of severe a-thalassaemia fetus. Methods Etythrocyte parameters hemoglobin electrophoresis （ HbA2 ） and erythrocyte osmotic fragility test （ MDST ） were performed in 137 pregnant women with alpha thalassaemia,30 pregnant women with iron deficiency anemia and 30 norml pregnant women to compare the difference. Results There were 5 genotypes in 137 pregnant women with a-thalassaemia ：--SEA/aa （ South-East Asia ） 110 cases,-a 3. 7/aa 20 cases,-a 4. 2/aa 2 cases,-a 3. 7/--SEA4 cases,-a 4. 2/--SEA1 case. There were characteristic changes：high RDW,low MCV and low MCH in alpha thalassaemia group. There were significant differences in the erythrocyte paraments between a-thalassaemia group and normol group except RDW（P＆lt;0. 01）;between a-thalassaemia and IDA group except RDW and MCHC（P＆lt;0. 01）. The results of the parameters such as Hb、MCH、MCHC、HbA2,showed that there was no significant difference except HbA2 bettween the a-thalassaemia group and the IDA group（P＆lt;0. 05）. Conclusion The South-East Asia deletion genotype was the predominant genotype of a-thalassaemia in Mianyang city. MCV,MCH and HbA2 electrophoresis as poor screening index,joint application,can improve the poor prenatal screening positive rate,but it must be combined with genetic diagnosis method,to achieve a wide range of poor screening and diagnosis.

关 键 词：孕妇 Α-地中海贫血 基因分析 血液 

分 类 号：R556.61[医药卫生—血液循环系统疾病]