α2珠蛋白基因突变IVS-Ⅱ-55(T→G)的临床表型分析
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深圳市医疗卫生三名工程(SZSM201601062)


Analysis of clinical phenotype of a α2-globin gene mutation -IVS-Ⅱ-55 (T→G)
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    摘要:

    摘要:目的:鉴定一种α2-珠蛋白基因突变类型,分析携带者的表型特征。 方法:收集5个携带α2-珠蛋白基因IVS-Ⅱ-55(T→G)杂合突变的婴幼儿先证者的家系和3例散发成人携带者的外周血样本进行血常规和血红蛋白电泳分析,并采用跨越断裂点聚合酶链反应(Gap-PCR)方法、PCR结合反向点杂交(PCR-RDB)法以及DNA测序方法进行珠蛋白基因缺失和突变的鉴定。 结果:13例α2-珠蛋白基因IVS-Ⅱ-55(T→G)杂合突变携带者中,5例婴幼儿先证者的MCV和MCH均低于正常参考区间,表现为小细胞低色素轻中度贫血;成人(包括3例散发成人和5例家系中的成人携带者)中1例表现为小细胞低色素中度贫血,1例复合βCD27-28杂合突变表现为MCV 65 fL、MCH 20.3 pg,1例复合SEA-HPFH表现为MCV 81.9 fL、MCH 26.5 pg,其余MCV和MCH均正常;IVS-Ⅱ-55复合βCD27-28杂合突变的HbA2为5.8%。IVS-Ⅱ-55复合SEA-HPFH的HbA2为3.0%,HbF为29.0%。单纯IVS-Ⅱ-55杂合子的HbA2均正常。所有携带者均未见异常血红蛋白条带。 结论:单纯IVS-Ⅱ-55(T→G)杂合子的血液学表型正常,复合β地贫时表型与单纯β地贫类似。

    Abstract:

    Abstract: Objective: To identify a α-globin gene mutation-IVS-Ⅱ-55 (T→A) and analyze hematological characteristics of IVS-Ⅱ-55 (T→G) carriers. Methods: The peripheral blood samples were collected from the members of five family and three sporadic IVS-Ⅱ-55(T→G) carriers for the analysis of RBC parameters and hemoglobin electrophoresis. Gap-PCR, PCR-RDB (reverse dot blot) and DNA sequencing were carried out for the identification of gene deletion and mutation of α-globin and β-globin. Results: The results of RBC parameters of five infant probands which presented with microcytic hypochromic anemia were below the normal reference interval. One of the adult carriers of IVS-Ⅱ-55 (T→G) heterozygote alone presented with microcytic hypochromic anemia, and the others showed normal RBC parameters. The hematological phenotype index (MCV, MCH and HbA2) of one adult carrying a compound heterozygote for IVS-Ⅱ-55 (T→G) and βCD27-28M/N were 65.0 fL, 20.3 pg and 5.8% respectively. The hematological phenotype index (MCV, MCH, HbA2 and HbF) of one adult carrying a compound heterozygote for IVS-Ⅱ-55 (T→G) and SEA-HPFH were 81.9 fL, 26.5 pg, 3.0% and 29.0% respectively. The HbA2 levels of all carriers of IVS-Ⅱ-55 (T→G) heterozygote alone were in normal range. No abnormal hemoglobin band was detectable on hemoglobin electrophoresis for all the carries. Conclusion: The carriers of IVS-Ⅱ-55(T→G) heterozygote alone were asymptomatic. The phenotype of compound heterozygote for β-thalassemia was similar to that of β-thalassemia alone.

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李育敏,陈亚琼,张水兰,阚丽娟,张兵,汤花梅,张秀明.α2珠蛋白基因突变IVS-Ⅱ-55(T→G)的临床表型分析[J].临床检验杂志,2019,(2):105-108

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  • 收稿日期:2017-10-22
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  • 在线发布日期: 2019-03-19
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