Associations between and polymorphisms and thalassemia risk.

Objectives: This study investigated the associations of the rs4671393, rs1427407, and rs11886868 genetic variants of the gene and the rs9399137 variant of the gene with thalassemia in patients from the population of Punjab, Pakistan.

Methods: A cohort of 600 participants, comprising 300 patients with thalassemia and 300 age- and sex-matched healthy controls, was recruited from various hospitals in Punjab, Pakistan. DNA was extracted from whole blood samples from all participants.