Zheng Lin, Huang Hailong, Wu Xiaoqing, Su Linjuan, Shen Qingmei, Wang Meiying, Lin Na, Xu Liangpu
Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, Fujian, People's Republic of China.
Int J Gen Med. 2021 Oct 28;14:7329-7335. doi: 10.2147/IJGM.S338419. eCollection 2021.
Carrier screening is the most effective means of controlling the prevalence of alpha-thalassemia. However, due to the differences in ethnic populations and genotypes, the distribution of mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and hemoglobin A (HbA) varies in different regions. This study aimed to examine screening efficiency of these indicators in different genotypes of alpha-thalassemia in Fujian Province, China.
The data of 13,294 subjects collected from May 2016 to December 2019 were reviewed. The participants were categorized as alpha-thalassemia group and negative-for-alpha-thalassemia group based on the results of the genetic analysis. The distribution of MCV, MCH, and HbA in different groups was analysed statistically. And the screening efficiency of different indicators and schemes was compared in different genotypes. The positive criteria of MCV < 80fL, MCH < 27pg, and Hb A< 2.5% were applied.
Among the 13,294 subjects, 2658 were alpha-thalassemia carriers. The genotypes of -/αα and -α/αα are the most prevalent with 63.9% and 21.9% in Fujian Province, China. There were significant differences in the distribution of the three indicators in different groups. The detection rate of the three indicators combined screening was 92.6%.
The distribution of the three indicators overlapped partly between alpha-thalassemia group and negative-for-alpha-thalassemia group. They showed significant differences in the median comparison of seven common genotypes. Combined screening with MCV, MCH and HbA improved the detection rate of alpha-thalassemia. The results of this study provide a data basis for clinical laboratories and a reliable reference for clinical consultation.
携带者筛查是控制α地中海贫血患病率的最有效手段。然而,由于种族人群和基因型的差异,不同地区平均红细胞体积(MCV)、平均红细胞血红蛋白含量(MCH)和血红蛋白A(HbA)的分布有所不同。本研究旨在探讨这些指标在中国福建省不同基因型α地中海贫血中的筛查效率。
回顾了2016年5月至2019年12月收集的13294名受试者的数据。根据基因分析结果,将参与者分为α地中海贫血组和非α地中海贫血组。对不同组中MCV、MCH和HbA的分布进行统计学分析。并比较不同指标和方案在不同基因型中的筛查效率。采用MCV<80fL、MCH<27pg和HbA<2.5%的阳性标准。
在13294名受试者中,有2658名是α地中海贫血携带者。在中国福建省,基因型-/αα和-α/αα最为常见,分别占63.9%和21.9%。不同组中这三项指标的分布存在显著差异。三项指标联合筛查的检出率为92.6%。
α地中海贫血组和非α地中海贫血组三项指标的分布部分重叠。它们在七种常见基因型的中位数比较中显示出显著差异。MCV、MCH和HbA联合筛查提高了α地中海贫血的检出率。本研究结果为临床实验室提供了数据依据,为临床咨询提供了可靠参考。