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

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 ^E (GAG > AAG) (3.13%). In the β ⁰, β ⁺, and HbE groups, MCV values were 63.8 ± 4.2 fL, 67.0 ± 5.5 fL, and 75.8 ± 5.6 fL, while MCH values were 20.1 ± 1.4 pg, 21.2 ± 1.9 pg, and 24.8 ± 2.0 pg, respectively. Among β-thalassemia carriers, 85 (1.25%) and 28 (0.41%) individuals had MCV ≥ 80 fL and MCH ≥ 27 pg, respectively. Using a combination of MCV and MCH reduced the number of false negative screenings to 15 (0.22%). Therefore, evaluating both MCV and MCH is strongly recommended for screening β-thalassemia carriers.

Keywords: Beta-thalassemia; Mean corpuscular hemoglobin; Mean corpuscular volume; Screening; Southern China.