Abstract

Hemoglobinopathies (including β-thalassemia) are common genetic disorders in Pakistan and worldwide, associated with life-long transfusion dependency and significant healthcare costs. The reported incidence of β-thalassemia disease is much higher in Pakistan causing a major healthcare burden on resource limited clinical settings in Pakistan. Hydroxyurea is the only FDA approved drug for ameliorating disease severity through fetal hemoglobin (HbF) modulation, however, inter-individual variability exists in response to hydroxyurea therapy determined by genetic and epigenetic factors. Therefore, the study proposed here aims to determine pharmacogenetics basis of hydroxyurea response in local β-thalassemia patients receiving hydroxyurea therapy, enabling differentiation of potential hydroxyurea responders and non-responders on the basis of systematic genetic profiling.