[1]曾甜甜,许生样.浙江地区地中海贫血筛查结果及基因型分析[J].医学信息,2025,38(03):46-49.[doi:10.3969/j.issn.1006-1959.2025.03.008]
　ZENG Tiantian,XU Shengyang.Screening Results and Genotype Analysis of Thalassemia in Zhejiang Area[J].Journal of Medical Information,2025,38(03):46-49.[doi:10.3969/j.issn.1006-1959.2025.03.008]
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浙江地区地中海贫血筛查结果及基因型分析()
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医学信息[ISSN:1006-1959/CN:61-1278/R]

卷:
38卷
期数:
2025年03期
页码:
46-49
栏目:
公众健康信息学
出版日期:
2025-02-01

文章信息/Info

Title:
Screening Results and Genotype Analysis of Thalassemia in Zhejiang Area
文章编号:
1006-1959（2025）03-0046-04
作者:
曾甜甜; 许生样
杭州迪安医学检验中心有限公司，浙江 杭州 31001
Author(s):
ZENG Tiantian;  XU Shengyang
Hangzhou DIAN Medical Laboratory Co., Ltd., Hangzhou 310012, Zhejiang, China
关键词:
地中海贫血; 基因型; 浙江地区
Keywords:
Thalassemia;  Genotype;  Zhejiang area
分类号:
R556.6
DOI:
10.3969/j.issn.1006-1959.2025.03.008
文献标志码:
A
摘要:
目的 分析浙江地区人群中地中海贫血分布情况与基因型类型，为本地区地贫的防治提供资料。方法 送检对象来自于浙江各区、县，为2021年1月-12月进行地贫基因筛查的3250例样本，采用荧光PCR熔解曲线法，对常见的6种α地中海贫血及21种β地中海贫血基因进行基因型检测。结果 3250例患者中检出地中海贫血1666例，检出率为51.26%。其中检出α地中海贫血757例占比23.29%，检出β地中海贫血909例占比27.97%。α地中海贫血以αα/--SEA型为主（69.62%），β地中海贫血以IVS-Ⅱ-654（C＞T）杂合突变最为常见（35.53%）。结论 浙江地区β地中海贫血发病率高于α地中海贫血，尽管浙江并非我国地贫高发地区，但发病率和新生儿患病风险仍然不能忽视，做好育龄人群和新生儿的地贫筛查和基因诊断具有重要意义。
Abstract:
Objective To analyze the distribution and genotype types of thalassemia in the population of Zhejiang area, and to provide information for the prevention and treatment of thalassemia in this region. Methods Samples were sent from all districts and counties of Zhejiang, which were 3250 samples that underwent thalassemia gene screening from January to December 2021, and genotypes of 6 common α-thalassemia genes and 21 β-thalassemia genes were detected by fluorescence PCR melting curve method. Results Thalassemia was detected in 1666 of 3250 patients, with a detection rate of 46.95%. Among them, 757 cases of α-thalassemia were detected accounting for 23.29%, and 909 cases of β-thalassemia were detected accounting for 27.97%. α-thalassemia was predominantly of the αα/--SEA type (69.62%), and β-thalassemia was most commonly characterized by the heterozygous mutation of IVS-Ⅱ-654 (C＞T) (35.53%). Conclusion The prevalence of β-thalassemia was higher than that of α-thalassemia in Zhejiang area. Although Zhejiang is not a high prevalence area of thalassemia in China, the prevalence and risk of the disease in newborns should not be ignored, and it is important to do a good job of screening and genetic diagnosis of thalassemia in the population of childbearing age and in newborns.

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更新日期/Last Update: 1900-01-01