贺州地区非常规型地中海贫血携带类型及相关临床特征<sup>*</sup>

doi:10.3969/j.issn.1671-7171.2025.05.010

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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/ααα^anti3.7 (6 cases, 28.57%), --^THAI/αα (Thailand type, 5 cases, 23.81%), and α^IVS-II-55α/αα (3 cases, 14.29%). For β-thalassemia, β^-50/β^N was the most common (11 cases, 40.74%), followed by β^CD37/β^N (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 β^CD37/β^N, β^-50/β^N, and αα/ααα^anti3.7 in routine genetic screening, which may help effectively prevent the birth of children with moderate to severe thalassemia.

Key words： Thalassemia Genotype Clinical Symptoms

Received: 03 January 2025

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http://journal07.magtech.org.cn/yxlcyj/EN/10.3969/j.issn.1671-7171.2025.05.010 OR http://journal07.magtech.org.cn/yxlcyj/EN/Y2025/V42/I5/769

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