Effectiveness of Using Mean Corpuscular Volume and Mean Corpuscular Hemoglobin for Beta-thalassemia Carrier Screening in the Guangdong Population of China.

Author: Heng GU ¹ ; Yong Xia WANG ¹ ; Meng Xuan DU ² ; Shan Shan XU ¹ ; Bing Yi ZHOU ¹ ; Ming Zhen LI ¹
Author Information

1. NHC Key Laboratory of Male Reproduction and Genetics, Family Planning Research Institute of Guangdong Province, Guangzhou 510000, Guangdong, China.
2. Department of Public Health and Preventive Medicine, Jinan University, Guangzhou 510000, Guangdong, China.
Publication Type:Letter
Keywords: Beta-thalassemia; Mean corpuscular hemoglobin; Mean corpuscular volume; Screening; Southern China
MeSH: Adult; China; Erythrocyte Indices; Female; Humans; Male; Mass Screening; Middle Aged; Mutation; Young Adult; beta-Thalassemia/genetics*
From: Biomedical and Environmental Sciences 2021;34(8):667-671
CountryChina
Language:English
Abstract: Beta (β)-thalassemia is one of the most common hemoglobinopathies worldwide, creating major public health problems and social burdens in many regions. Screening for β-thalassemia carriers is crucial for controlling this condition. To investigate the effectiveness of mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) for screening β-thalassemia, retrospective data were analyzed for 6,779 β-thalassemia carriers subjected to genetic testing following thalassemia screening in Guangdong province between January 2018 and December 2019. Prevalent mutations observed included CD41/42 (-TTCT) (38.43%), IVS-II-654 (C > T) (25.71%), -28 (A > G) (15.78%), CD17 (AAG > TAG) (10.03%), and β