Thalassemia screening and genotype analysis in 488 sperm donors in Chongqing Human Sperm Bank
10.13406/j.cnki.cyxb.003790
- VernacularTitle:重庆市人类精子库488例捐精志愿者地中海贫血筛查情况及基因型分析
- Author:
Weiqiong SHENG
1
;
Jing HUANG
;
Tianfeng ZHANG
;
Yi ZHANG
;
Hua HUANG
;
Hong WANG
;
Guoqing JIA
;
Chengjiang KANG
Author Information
1. 重庆市人口和计划生育科学技术研究院附属医院人类精子库,重庆 400020
- Keywords:
Chongqing;
sperm donor;
thalassemia;
genotype analysis
- From:
Journal of Chongqing Medical University
2025;50(4):511-515
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the carriage of the thalassemia gene in sperm donors in Chongqing,China by analyzing the thalas-semia screening and gene mutation types of sperm donors in Chongqing Human Sperm Bank(CHSB),and to provide a reference for thalassemia screening in sperm donors in Chongqing.Methods:Blood samples were collected from 488 sperm donors in CHSB(donors with all tests qualified during the quarantine)from December 2021 to August 2024.A complete blood count analysis was performed to measure the mean corpuscular volume(MCV)and mean corpuscular hemoglobin(MCH).Polymerase chain reaction(PCR)/agarose gel electrophoresis was used to detect deletional α-thalassemia mutations.PCR and DNA reverse dot blot hybridization were used to detect 3 common non-deletional α-thalassemia mutations and 17 common β-thalassemia mutations.The test results were then analyzed.Results:Among the 488 sperm donors aged 25.64±4.95 years,15(3.07％,all Han nationality)tested positive for thalassemia.This carriage rate was lower than that of the thalassemia population in Chongqing(9.24％).Among the 15 thalassemia carriers,13 had deletional α-gene mutations(-α3.7 genotype in 11 cases[73.33％],-α4.2 genotype in 1 case[6.67％],and-SEA genotype in 1 case[6.67％]),and 2 had non-deletional α-gene mutations(both with the WSM heterozygous mutation).There was only 1 case of abnor-mal MCV and MCH2 indicators among thalassemia carriers(screening positive rate was 6.67％).Conclusion:Thalassemia screening in sperm donors in CHSB reveals a low thalassemia carriage rate,reflecting geographic(predominantly Sichuan and Chongqing ori-gins)and demographic(healthy men of childbearing potential)characteristics.Given the significant impact of thalassemia on the off-spring conceived through sperm donation,it is recommended to conduct thalassemia gene screening among sperm donors in human sperm banks.
