Genetic modifiers of Hb E/β0 thalassemia identified by a two-stage genome-wide association study

• Main Authors: Richard Sherva, Orapan Sripichai, Kenneth Abel, Qianli Ma, Johanna Whitacre, Vach Angkachatchai, Wattanan Makarasara, Pranee Winichagoon, Saovaros Svasti, Suthat Fucharoen, Andreas Braun, Lindsay A Farrer
• Other Authors: Mahidol University. Institute of Molecular Biosciences. Thalassemi a Research Center
• Format: Article
• Language: English
• Published: 2015
• Subjects: Genetic modifiers; Hb E/β0; thalassemia identified; a two-stage; genome-wide; association; Open Access article
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/1836
• Institution: Mahidol University

Background Patients with Hb E/β0 thalassemia display remarkable variability in disease severity. To identify genetic modifiers influencing disease severity, we conducted a two-stage genome scan in groups of 207 mild and 305 severe unrelated patients from Thailand with Hb E/β0 thalassemia and normal...