Zheng Junhao, Chen Meihuan, Zhang Siwen, Lv Aixiang, Zhang Min, Chen Lingji, Lin Na, Xu Liangpu, Huang Hailong
The School of Medical Technology and Engineering, Fujian Medical University, Fuzhou, China.
Key Laboratory of Clinical Laboratory Technology for Precision Medicine (Fujian Medical University), Fujian Province University, Fuzhou, China.
Genet Res (Camb). 2025 Jun 8;2025:8862095. doi: 10.1155/genr/8862095. eCollection 2025.
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. 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. 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 β and β groups ( < 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 ( < 0.05). 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.
本研究旨在调查中国福建省β地中海贫血的突变谱，并全面分析β地中海贫血携带者的年龄、性别、基因型和血液学参数之间的相关性。采用反向点杂交（RDB）或β珠蛋白基因测序分析了10350名疑似地中海贫血患者的基因型。按基因型、性别和年龄对其血液学指标进行分析。在这些受试者中，1214人（11.73%）被鉴定为β地中海贫血携带者。常见基因型包括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%）和CD 26（GAG＞AAG）/N（3.05%）。检测到两种罕见突变，Cap+22（G＞A）和IVS-II-806（G＞C），后者是与血红蛋白（Hb）纽约、复合-α4.2/αα和Hb Q泰国双重杂合状态的一部分，这是在中国个体中的首次报道。血液学分析显示，与β和β组相比，CD 26组的Hb、平均红细胞体积（MCV）和平均红细胞血红蛋白（MCH）水平更高（＜0.05）。在β组中，-28（A＞G）/N个体的Hb、MCV和MCH水平明显高于IVS-II-654（C＞T）/N个体。成年男性的Hb水平高于成年女性，成年患者的MCV和MCH水平通常高于未成年人（＜0.05）。本研究是福建省首次对β地中海贫血进行的全面分子流行病学调查和血液学分析，为优化地中海贫血防控策略提供了支持。
