重庆地区108 140例疑似贫血患者地中海贫血筛查及检出基因型分析

杨嫄; 朱丽丹; 张颖; 刘圣艳; 陈永平; 王劲; 张勇; 谢成敏; 张曦; 李云龙

doi:10.16016/j.1000-5404.202006021

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重庆地区108 140例疑似贫血患者地中海贫血筛查及检出基因型分析

临床医学 | 更新时间：2026-01-09

- 重庆地区108 140例疑似贫血患者地中海贫血筛查及检出基因型分析
- Screening results and analysis on genotype of thalassemia in 108 140 anemia patients in Chongqing
- 第三军医大学学报 2020年42卷第17期页码：1750-1756
- 作者机构：
- 作者简介：
- 基金信息：
  
  重庆市卫生和计划生育委员会医学科研项目(2015MSXM179);重庆市綦江区科技计划项目(QJ2016181);重庆市綦江区科技计划项目(QJ2018029)
- DOI：10.16016/j.1000-5404.202006021
  中图分类号：
- 收稿：2020-06-02，
  
  纸质出版：2020-09-15
- 稿件说明：
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杨嫄, 朱丽丹, 张颖, 等. 重庆地区108 140例疑似贫血患者地中海贫血筛查及检出基因型分析[J]. 第三军医大学学报, 2020,42(17):1750-1756.

Yuan YANG, Lidan ZHU, Ying ZHANG, et al. Screening results and analysis on genotype of thalassemia in 108 140 anemia patients in Chongqing[J]. Journal of Third Military Medical University, 2020, 42(17): 1750-1756.
杨嫄, 朱丽丹, 张颖, 等. 重庆地区108 140例疑似贫血患者地中海贫血筛查及检出基因型分析[J]. 第三军医大学学报, 2020,42(17):1750-1756. DOI： 10.16016/j.1000-5404.202006021.

Yuan YANG, Lidan ZHU, Ying ZHANG, et al. Screening results and analysis on genotype of thalassemia in 108 140 anemia patients in Chongqing[J]. Journal of Third Military Medical University, 2020, 42(17): 1750-1756. DOI： 10.16016/j.1000-5404.202006021.

摘要

Abstract

Objective

To investigate the genotypes and distribution characteristics of thalassemia in Chongqing.

Methods

A total of 108 140 peripheral blood samples were harvested from 36 districts and counties in Chongqing during January 2018 and November 2019. Single-tube multiplex polymerase chain reaction (PCR) and reverse spot-strip hybridization (RDB) were employed to detect 3 common α-thalassemia genotypes and 17 common β-thalassemia point mutations. The results were analyzed statistically.

Results

A total of 9 988 (9.24%) thalassemia carriers were identified

and among them

5 448 were carriers of α-thalassemia gene mutation

with a detection rate of 5.04% (5 448/108 140)

with --SEA/αα deletion genotype most common (accounting for 45.71% of α-thalassemia). Detection of 13 genotypes of β-thalassemia detected 4 368 patients with β-thalassemia gene mutations

with a detection rate of 4.04% (4 368/108 140)

and 4 359 patients of them (99.8%) were heterozygous

mainly CD41-42 (-CTTT)

CD17 (AAG>TAG) and IVS2-654(C>T). One homozygous case was firstly reported in Chongqing

and the left 8 cases (0.18%) were double heterozygous. Two types of double heterozygous mutations

CAP (A-C)/IVS2-654 (C>T) and CD17 (AAG>TAG)/βE (GAG>AAG) were not reported in China. For the 172 patients who were confirmed as composite α- and β-thalassemia carriers

the detection rate was 0.16%

and the most common genotype was -α3.7/αα with CD41-42(-CTTT). The incidence of composite α- and β-thalassemia in this study was at the middle level in China. There were totally 4 triple heterozygous mutants among the composite thalassemia

and triple heterozygous mutations of (-α4.2/αα

βE(GAG>AAG)

IVS2-654(C>T)

-α3.7/αα

-α4.2/αα

-29(A-G) and -α3.7/αα

-α4.2/αα

CD17(AAG>TAG)) were not reported yet in our country.

Conclusion

Regional characteristics is found in the gene mutation composition ratio of thalassemia in Chongqing region. The incidences of α-thalassaemia and β-thalassaemia are lower than those of Guangdong and Guangxi regions

and the incidence of composite α- and β-thalassemia is in the middle level of our country. Five mutant genotypes are identified for the first time in China.

关键词

Keywords

references

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