Genetic polymorphisms of HbE/beta thalassemia related to clinical presentation: implications for clinical diversity

• Published in: Annals of hematology Vol. 99; no. 4; pp. 729 - 735
• Main Authors: Azman, Nurul Fatihah, Abdullah, Wan Zaidah, Hanafi, Sarifah, Diana, R., Bahar, Rosnah, Johan, Muhammad Farid, Zilfalil, Bin Alwi, Hassan, Rosline
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.04.2020; Springer Nature B.V
• Subjects: beta-Globins - genetics; beta-Thalassemia - genetics; Case-Control Studies; Child; Ethnic Groups - genetics; Female; Genetic Association Studies; Genome-Wide Association Study; Hematology; Hemoglobin E - genetics; Hemoglobinuria - genetics; Heterozygote; Humans; Malaysia; Male; Medicine; Medicine & Public Health; Oncology; Original Article; Phenotype; Polymorphism, Single Nucleotide; Severity of Illness Index; Malaysia; HbE/Beta thalassemia; Disease severity; SNPs; Heterogeneous

HbE/Beta thalassemia (HbE/β-thalassemia) is one of the common genetic disorders in South East Asia. It is heterogeneous in its clinical presentation and molecular defects. There are genetic modifiers which have been reported to influence the disease severity of this disorder. The aim of this study w...