Genetic modifiers of response to thalidomide in transfusion-dependent beta-thalassemia patients: a whole-exome sequence analysis.

ABSTRACT:

Background

Thalidomide induces fetal hemoglobin and renders most thalassemia patients transfusion-independent. Some patients, however, do not respond. Underlying genetic variations responsible for variable responses to thalidomide are unexplored.

Aims and objectives

To discover genetic variations that influence response to thalidomide in transfusion-dependent beta-thalassemia patients.

Methods

Twenty beta-thalassemia patients (14 excellent responders and six non-responders) who had received thalidomide were included in the study by a non-probability purposive sampling technique. Patients who showed a rise of >2 mg/dl in hemoglobin level and/or whose hemoglobin levels reached 9 gm/dl without blood transfusions were designated as excellent responders. Patients whose hem

SUBMITTER: Bawazir WM 

PROVIDER: S-EPMC12513377 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature