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27-02-2024 | Thalassemia | Original Article

Prevalence of thalassemia-carrier couples and fertility risk assessment

Authors: Liu-Song Wu, Xi Luo, Mei Tan, Li-Jun Zhang, Hong-Fang Luo, Ge Huang, Pei Huang, Jindong Chen, Yan Chen

Published in: International Journal of Hematology | Issue 4/2024

Abstract

Thalassemia is a highly prevalent hematologic disease in Guizhou, China. This study aimed to determine the epidemiological characteristics of thalassemia in couples at childbearing age and assess the neonatal risk of thalassemia in this subpopulation. A cohort of 4481 couples at childbearing age were recruited for thalassemia carrier screening by both traditional hematological tests and next-generation sequencing. Of them, 1314 (14.66%) thalassemia carriers were identified, including 857 (9.76%) α-thalassemia, 391 (4.36%) β-thalassemia, and 48 (0.54%) composite α and β-thalassemia. A total of 12 α-globin gene alterations and 16 β-globin mutations were detected, including four novel thalassemia mutations. SEA was the most common α-thalassemia genotype (26.86%), CD41–42 the most common β-thalassemia genotype (36.57%), and αα/− α3.7 + CD41–42 the most common composite α- and β-thalassemia genotype (18.75%). Ethnically, the Zhuang had the highest rate of thalassemia gene carriers among the ethnic groups. Geographically, Qiannan had the highest rate of thalassemia gene carriers. In addition, 38 of the 48 couples with composite α- and β-thalassemia were high-risk thalassemia carriers, and 4 carrying the -SEA/αα gene needed fertility guidance.

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Title: Prevalence of thalassemia-carrier couples and fertility risk assessment
Authors: Liu-Song Wu
Xi Luo
Mei Tan
Li-Jun Zhang
Hong-Fang Luo
Ge Huang
Pei Huang
Jindong Chen
Yan Chen
Publication date: 27-02-2024
Publisher: Springer Nature Singapore
Keywords: Thalassemia
Fertility
Published in: International Journal of Hematology / Issue 4/2024
Print ISSN: 0925-5710
Electronic ISSN: 1865-3774
DOI: https://doi.org/10.1007/s12185-024-03722-2

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