实用医学杂志2019，Vol.35Issue(4)：615-619,5.DOI:10.3969/j.issn.1006-5725.2019.04.024
广西不孕不育人群α-地中海贫血基因分型与筛查结果分析
Analysis of results of genotyping and screening for infertile subjects with alpha-thalassemia in Guangxi
摘要
Abstract
Objective Investigation of the carrier rate, genotyping and genotype frequency of alpha-thalassemia among infertile subjects in Guangxi, and analysis of the relationship between the results of hemoglobin electrophoresis and hematologic parameters among patients with three phenotypes of alpha-thalassemia and subjects with non-thalassemia. Methods The preliminarily patients who were diagnosed as beta-thalassemia via HbA2>3.5％ and/or HbF> 2％ were excluded. Alpha-thalassemia genes of 10 020 infertile subjects were detected in our center from 2017 to 2018, and the results of hemoglobin electrophoresis and hematologic parameters in patients with three phenotypes of alpha-thalassemia were compared. Results 624 patients with alpha-thalassemia were confirmed via gene diagnostic technique, including 19 genotypes, total carrier rate for 6.23％, 275 (2.74％) patients with silent alpha-thalassemia, 326 (3.25％) patients with alpha-thalassemia trait and 23 (0.23％) patients with HbH disease. The most common genotype was--SEA/αα, followed by-α3.7/αα and α, CSα/αα. The parameters of MCV, MCH, MCHC, Hb, HCT, HbA2 were lower, but the value of RBC were higher (both P < 0.05) , in patients with three phenotypes of alpha-thalassemia than subjects with non-thalassemia. The parameters mentioned above excluding HbA2 in patients with alpha-thalassemia showed the following regularity : silent alpha-thalassemia> potential alpha-thalassemia> HbH disease. RBC value tended to increase gradually in patients with silent alpha-thalassemia, potential alpha-thalassemia and HbH disease. Conclusion Infertility with alpha-thalassemia is very popular in Guangxi, especially--SEA/αα which is the most common genotype. The value of MCV, MCH, MCHC, Hb, RBC and HCT are conducive to screening for infertile subjects with alpha-thalassemia, and have certain clinical value for differentiating three phenotypes of alpha-thalassemia.关键词
不孕不育/α-地中海贫血/基因分型/血液学参数/血红蛋白电泳Key words
infertility/Alpha-thalassemia/genotyping/hematologic parameters/hemoglobin electrophoresis引用本文复制引用
唐兰艳,吕福通,柳青,陈一君,谢丹尼..广西不孕不育人群α-地中海贫血基因分型与筛查结果分析[J].实用医学杂志,2019,35(4):615-619,5.基金项目
广西壮族自治区常见出生缺陷人群干预模式研究计划项目(编号:桂人口计生研1108) （编号:桂人口计生研1108）
