Clinical analysis of β-thalassemia combined with α-globin gene triplet
10.3760/cma.j.cn114452-20250620-00357
- VernacularTitle:β地中海贫血合并α珠蛋白基因三联体的临床分析
- Author:
Yingli CAO
1
;
Caiyun LI
1
;
Haoqing ZHANG
1
;
Shuai HOU
1
;
Jufang TAN
1
;
Dongqun HUANG
1
;
Dongzhu LEI
1
Author Information
1. 郴州市第一人民医院产前诊断中心，郴州 423000
- Publication Type:Journal Article
- Keywords:
β-thalassemia;
α-globin gene triplet;
Intermediate thalassemia;
High-throughput sequencing technology
- From:
Chinese Journal of Laboratory Medicine
2025;48(10):1344-1348
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical phenotypes and hematological characteristics of β-thalassemia combined with α-globin gene triplet.Methods:A retrospective case analysis study was conducted, taking individuals diagnosed with thalassemia who sought for outpatient services in No 1 people′s hospital of Chenzhou affiliated to South China University from August 10, 2021, to December 31, 2023 as study objectives. Among them, there were 8 768 males and 11 707 females, aged 31.5 (23.0, 46.0) years old. Blood analysis were analyzed by hematology analyze.The hemoglobin(Hb) Hb A, HbA 2,Hb F bands were analyzed by Capillary electrophoresis method, and the genotypes of thalassemia were analyzed by high-throughput sequencing technology.Hematological parameters between different genotypes of thalassemia were analyzed using t-tests and calibrated t-tests for data analysis. Results:A total of 27 cases of beta thalassemia combined with alpha globin triplet were detected, The average hemoglobin (Hb) of 11 cases of β Codon41/42 (-CTTT)/β N combined with ααα anti 4.2 (3.7) (92±16)g/L was lower than that of β Codon41/42 (-CTTT)/β N(112±11)g/L, and the difference was statistically significant ( t=3.97, P0.05). The average Hb of 8 cases of β IVS-Ⅱ-654 (CT)/β N combined with ααα anti 4.2 (3.7)(85±21) g/L was lower than that of β IVS-Ⅱ-654 (CT)/β N(116±12) g/L, and the difference was statistically significant ( t=4.05, P0.05). Conclusion:When the mutation site is at Codon41/42 (-CTTT) or IVS-Ⅱ-654 (CT), β-thalassemia combined with alpha globin triplet can make the clinical manifestations of β-thalassemia at this site more pronounced.
