湖北十堰地区4629例孕妇地中海贫血产前筛查结果分析

摘要:目的 了解湖北十堰地区孕妇地中海贫血（简称地贫）的基因携带情况以及分布特点，为该病的筛查预防提供依据。方法 选择2020年1月至2023年8月在十堰市太和医院产科门诊接受地贫基因筛查的4629例孕妇，利用荧光PCR熔解曲线法，检测地贫相关基因突变的情况。结果 本次筛查共发现地贫基因突变体190例，地贫基因携带率为4.10%。其中α-地贫基因突变体129例（67.90%），共9种基因突变类型，以-α3.7［81例（62.78%）］和--SEA ［23例（17.83%）］类型为主；β-地贫基因突变体54例（28.42%），共6种基因突变类型，以 IVS-Ⅱ-654 ［21例（38.89%）］、CD41-42 ［17例（31.48%）］和 CD17 ［11例（20.37%）］类型为主；αβ复合型地贫基因突变体7例（3.68%）。结论 湖北十堰地区地贫基因携带者中α-地贫基因突变携带概率高于β-地贫基因突变。α-地贫基因突变类型以-α3.7最常见，β-地贫基因突变类型以 IVS-Ⅱ-654最常见，αβ复合型地贫少见。

关键词:十堰 / 地中海贫血 / 基因突变

Abstract:Objective To investigate the gene carrier status and distribution characteristics of thalassemia in pregnant women in Shiyan, Hubei Province, in order to provide reference for the screening and prevention of thalassemia.Methods A total of 4629 pregnant women, who underwent genetic screening test for thalassemia in the obstetrics outpatient clinic of Taihe Hospital of Shiyan from January 2020 to August 2023, were selected. Thalassemia-related gene mutations were detected using the fluorescent PCR melting curve method.Results A total of 190 cases in the screening were positive for thalassemia gene mutations with a carrier rate of 4.10%. Among them, there were 129 cases (67.90%) with mutations in the α-thalassemia gene, involving 9 gene mutation types, with -α3.7 (81 cases, 62.78%) and --SEA (23 cases, 17.83%) being the predominant types. There were 54 cases (28.42%) with mutations in the β-thalassemia gene, encompassing 6 gene mutation types, with IVS-Ⅱ-654 (21 cases, 38.89%), CD41-42 (17 cases, 31.48%) and CD17 (11 cases, 20.37%) being the predominant types. Seven cases (3.68%) had compound mutations involving both α and β thalassemia genes.Conclusion Among the thalassemia gene carriers in Hubei Shiyan, the probability of α-thalassemia gene mutations is higher than of β-thalassemia gene mutations. The most common type of α-thalassemia gene mutation is -α3.7, while the most common type of β-thalassemia gene mutation is IVS-Ⅱ-654, and compound mutations involving both α- and β-thalassemia genes are rare.

表 1 十堰地区孕妇地贫基因突变体的总体情况

Table 1. Thalassemia gene mutations in pregnant women in Shiyan

基因突变体n（%） α-地贫129（67.90）β-地贫54（28.42）αβ复合型地贫7（3.68）

表 2 α-地贫基因突变类型及构成比

Table 2. Mutation types and constituent ratios in cases with α-thalassemia

基因突变类型n（%） -α3.781（62.78）--SEA23（17.83）-α4.29（6.97）αQS1257（5.43）αCS1425（3.87）αWS1221（0.78）-α3.7/-α3.71（0.78）--SEA/-α3.71（0.78）HK αα/-α4.21（0.78）

表 3 β-地贫基因突变类型及构成比

Table 3. Mutation types and constituent ratios in cases with β-thalassemia

基因突变类型构成比，n（%） IVS-Ⅱ-65421（38.89）CD41-4217（31.48）CD1711（20.37）-283（5.56）-291（1.85）CD27-281（1.85）

表 4 αβ复合型地贫基因突变类型

Table 4. Mutation types in cases with αβ-thalassemia （n）

基因突变类型IVS-Ⅱ-654CD41-42CD17-28 -α3.72201--SEA0110[1]

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