Genotypic and hematological profiling of thalassemia in reproductive-age and pediatric populations

Thalassemia is mainly prevalent in southern China, but consistent regional epidemiological data remain scarce in Hubei Province (central China). The present study characterized thalassemia genotypes and hematological parameters in 2,604 non-selectively screened individuals of reproductive-age (mean age, 31.39±5.72 years) and 407 pediatric subjects (mean age, 3.19±4.31 years) with clinical indications enrolled at Renmin Hospital of Wuhan University (Wuhan, Hubei), from January 2019 to September 2024. Peripheral blood and serum samples were analyzed for red blood cell count (RBC), hemoglobin (Hb), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), serum iron, total iron binding capacity, serum ferritin (SF), folate, transferrin saturation and vitamin B12 (VITB12) levels. Genetic testing was performed using gap-polymerase chain reaction (gap-PCR), reverse dot blot, Sanger sequencing and research-grade gap-PCR. The overall thalassemia carrier rates were 14.94% (reproductive-age group), 37.35% (pediatric group), and 17.97% (combined). Common α-thalassemia genotypes included--SEA/αα and -α3.7/αα, and dominant β-thalassemia mutations were β654, β41-42 and β17, aligning with neighboring provinces, differing from southern high-prevalence regions. Most phenotypes exhibited reduced RBC, Hb, MCV, MCH (all P<0.01) and elevated SF, VITB12. The high pediatric carrier rate may stem from selection bias due to clinical enrollment criteria. Notably, Hb and MCH were effective screening markers. In conclusion, Hubei has a substantial thalassemia burden (especially in children), and enhanced prenatal screening/counseling is urgently needed.