β-Globin gene cluster polymorphisms are strongly associated with severity of HbE/β⁰-thalassemia

• Main Authors: Q. Ma, K. Abel, O. Sripichai, J. Whitacre, V. Angkachatchai, W. Makarasara, P. Winichagoon, S. Fucharoen, A. Braun, Lindsay A. Farrer
• Other Authors: Boston University School of Medicine
• Format: Article
• Published: 2018
• Subjects: Biochemistry, Genetics and Molecular Biology; Medicine
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/24075
• Institution: Mahidol University

We evaluated the contribution of 67 single nucleotide polymorphisms (SNPs) within the β-globin gene cluster to disease severity in groups of 207 mild- and 305 severe unrelated patients from Thailand with Hemoglobin E (HbE)/β0-thalassemia and normal α-globin genes. Our analysis showed that these SNPs...