Association Analysis of Kruppel like factor 1 (KLF1) and Secretion Association Ras Related GTPase 1A (SAR1A) Genetic Polymorphisms with Hydroxyurea Response in β-Thalassemia Patients

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.

Author(s): Imran Qadeer

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