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Utilization of multiple genetic methods for prenatal diagnosis of rare thalassemia variants

17 Jul 2023

Abstract excerpt

Background: Thalassemia is the most prevalent monogenic disorder caused by an imbalance between the α- and β-globin chains as a result of pathogenic variants in the α- or β-globin genes. Novel or complex structural changes in globin genes are major hurdles for genetic consulting and prenatal diagnosis. Methods: From 2020 to 2022, genetic analysis was performed on 1,316 families suspected of having children with...

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Genomics and Rare Diseases
Hemoglobinopathies and Related Disorders
Iron Metabolism and Disorders

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37529778
DOI: 10.3389/fgene.2023.1208102

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