[Analysis of Thalassemia Genotypes and Clinical Phenotypes in Liuzhou, Guangxi]

To understand the distribution characteristics of α, β-thalassemia gene mutation types and clinical phenotypes among different genders and ethnic groups in Liuzhou, and provide reference for the prevention and control of thalassemia in the area.

A total of 4 025 suspected thalassemia patients who visited the People's Hospital of Liuzhou from July 2020 to August 2023 were collected, including 1 718 males and 2 307 females, and 2 767 were of Han, 999 of Zhuang, 73 of Yao, 186 of Dong and other 12 ethnic minorities. Gap-PCR and PCR-reverse dot blot hybridization (RDB) techniques were used to detect deletional α-thalassemia genes, non-deletional α-thalassemia genes, and mutant β-thalassemia genes.

Among the 4 025 suspected cases of thalassemia, 1 902 cases were detected, with a detection rate of 47.25% (1 902/4 025). Among them, there were 1 135 cases of α-thalassemia, with a detection rate of 28.20% (1 135/4 025), mainly consisting of --^SEA /αα, -α ^3.7/αα, and α ^CS α /αα genotypes, accounting for 72.69% (825/1 135) of α-thalassemia. 645 cases of β-thalassemia were detected, with a detection rate of 16.02% (645/4 025). The main genotypes were β ^CD41-42 /β ^N , β ^CD17/β ^N , and β ^IVS-II-654/β ^N , accounting for 85.58% (552/645) of β-thalassemia. 122 cases of α combined with β thalassemia were detected, with a detection rate of 3.03% (122/4 025), mainly consisting of --^SEA/αα combined with β ^CD41-42 /β ^N , --^SEA/αα combined with β ^CD17/β ^N , -α ^3.7/αα combined with β ^CD41-42 /β ^N , and -α ^3.7/αα combined with β ^CD17/β ^N , accounting for 50.82% (62/122) of α combined with β thalassemia. According to statistical analysis, the detection rate of female patients was higher than that of male patients (P <0.05), the detection rate of Zhuang patients was higher than that of Han patients (P <0.05), and the detection rate of mild β-thalassemia in ethnic minorities was higher than that in the Han ethnic group (P <0.05).

In the Liuzhou area of Guangxi, α-thalassemia is the predominant type of thalassemia. The most prevalent genotype of α-thalassemia is --^SEA/αα, while the main genotype of β-thalassemia is β ^CD41-42 /β ^N , and there are disparities in the detection rate of thalassemia among different genders and nation groups.