Molecular Epidemiology of Thalassemia in University Town, Chongqing: Spectrum of Pathogenic Variants and Implications for Carrier Screening.

Authors

Wei Cai, Yi Liang, Li-Na Kang, Ya-Qian Jin, Pan Xu

Published in

Pharmacogenomics and personalized medicine. Volume 19. Pages 608098. Epub Jul 14, 2026.

Abstract

This study aimed to characterize the molecular epidemiology of α-/β-thalassemia in Chongqing's University Town population in the University Town area of Chongqing, China.
A retrospective analysis was conducted on 1012 individuals (comprising 840 females and 172 males, reflecting referral bias rather than biological sex differences) who underwent thalassemia genetic testing between June 2020 and February 2023. Genetic variants were detected using a combination of PCR and flow-through hybridization. Detection rates were compared between sexes using the chi-squared test. Hematological parameters were compared between carriers and a control group using the Mann-Whitney U-test.
The heterozygous carrier rates for α- and β-thalassemia were 12.1% and 11.4%, respectively. The overall detection rate was significantly higher in males (30.2%) than in females (22.1%). The predominant α-thalassemia variants were the -SEA deletion and the -3.7 kb deletion. The most frequent β-thalassemia variants were CD41-42, CD17, and IVS-II-654. Compared to controls, thalassemia carriers exhibited significantly elevated red blood cell (RBC) count and red cell distribution width (RDW), alongside reduced hemoglobin (Hb), hematocrit (HCT), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and mean corpuscular hemoglobin concentration (MCHC).
The spectrum of thalassemia gene variants in this Chongqing population exhibits distinct regional patterns. University Town hosts a young and highly mobile population with diverse regional origins, making it a representative area for epidemiological sampling. Furthermore, standard complete blood count (CBC) testing cannot reliably distinguish thalassemia from iron deficiency anemia. The findings underscore the necessity of widespread genetic screening among newborns, school-aged children, and individuals of reproductive age for early carrier identification. This is crucial for effective genetic counseling, reproductive risk assessment, and the prevention of severe thalassemia births in the region.

PMID:
42518880
Bibliographic data and abstract were imported from PubMed on 29 Jul 2026.

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