Abstract：【Objective】 To investigate the uncommon (rare) types of thalassemia (thal) carriers and their clinical characteristics in Hezhou, Guangxi, in order to provide better reference for genetic diagnosis and prenatal screening.【Methods】 A total of 5462 thalassemia screening-positive samples collected between 2022 and 2024 underwent routine thalassemia genetic testing. Samples with inconsistent results between screening and routine genetic testing were selected for further study. After excluding iron-deficiency anemia, techniques such as Gap-PCR and gene sequencing were used for further analysis.【Results】 A total of 48 rare thalassemia gene mutations were identified, including 21 cases of α-thalassemia and 27 cases of β-thalassemia. Among α-thalassemia cases, the top three mutation types were: αα/αααanti3.7 (6 cases, 28.57%), --THAI/αα (Thailand type, 5 cases, 23.81%), and αIVS-II-55α/αα (3 cases, 14.29%). For β-thalassemia, β-50/βN was the most common (11 cases, 40.74%), followed by βCD37/βN (6 cases, 22.22%).【Conclusion】 Some rare thalassemia mutations in Hezhou, particularly certain severe types, are not actually rare. It is recommended to pay more attention to the detection of βCD37/βN, β-50/βN, and αα/αααanti3.7 in routine genetic screening, which may help effectively prevent the birth of children with moderate to severe thalassemia.
赵玉兰, 林庆芳, 王春莲, 黄丽珍, 廖芬英. 贺州地区非常规型地中海贫血携带类型及相关临床特征*[J]. 医学临床研究, 2025, 42(5): 769-772.
ZHAO Yulan, LIN Qingfang, WANG Chunlian, et al. Uncommon Types of Thalassemia Carriers and Related Clinical Features in Hezhou Region. JOURNAL OF CLINICAL RESEARCH, 2025, 42(5): 769-772.
2025, Vol. 42 
