# Fujian Province β-Thalassemia: A Molecular and Hematological Study in Southeastern China

## TL;DR

This study identifies common genetic mutations causing β-thalassemia in Fujian Province and explores how these mutations affect blood parameters in carriers.

## Contribution

The first comprehensive molecular and hematological analysis of β-thalassemia in Fujian Province, China.

## Key findings

- IVS-II-654 (C > T)/N and CD 41-42 (-TTCT)/N were the most prevalent β-thalassemia genotypes.
- CD 26 carriers had higher hemoglobin, MCV, and MCH levels compared to β0 and β+ groups.
- Adult males had higher hemoglobin levels than adult females, and adults had higher MCV and MCH than minors.

## Abstract

Background: This study aims to investigate the mutation spectrum of β-thalassemia in Fujian Province, China, and to comprehensively analyze the correlation between age, gender, genotype, and hematological parameters in carriers of β-thalassemia.

Methods: Genotypes of 10,350 subjects suspected of having thalassemia were analyzed using reverse dot blotting (RDB) or β-globin gene sequencing. Their hematological indices were analyzed by genotype, gender, and age.

Results: Among the subjects, 1214 (11.73%) were identified as β-thalassemia carriers. The prevalent genotypes included IVS-II-654 (C > T)/N (37.56%), CD 41-42 (-TTCT)/N (30.72%), CD 17 (A > T)/N (9.64%), −28 (A > G)/N (7.00%), CD 27-28 (+C)/N (3.21%), and CD 26 (GAG > AAG)/N (3.05%). Two rare mutations, Cap+22 (G > A) and IVS-II-806 (G > C), were detected, with the latter being part of a double heterozygous condition with hemoglobin (Hb) New York, compound −α4.2/αα, and Hb Q Thailand, marking the first report in Chinese individuals. Hematological analysis revealed that the CD 26 group exhibited higher levels of Hb, mean corpuscular volume (MCV), and mean corpuscular hemoglobin (MCH) compared to the β0 and β+ groups (p < 0.05). Within the β+ group, individuals with −28 (A > G)/N showed significantly higher Hb, MCV, and MCH levels compared to those with IVS-II-654 (C > T)/N. Adult males had higher Hb levels than adult females, and adult patients generally had higher MCV and MCH levels than minors (p < 0.05).

Conclusion: This study represents the first comprehensive molecular epidemiological investigation and hematological analysis of β-thalassemia in Fujian Province, providing support for the optimization of prevention and control strategies for thalassemia.