What is it about?
We performed whole-exome sequencing in 20 children with transfusion-dependent beta-thalassaemia who had received thalidomide: 14 excellent responders and six non-responders. Variants in CHI3L1, NPNT and ZNF208 were more common among excellent responders, while variants in PM20D1, LGR6, MYH15 and RESF1 were more common among non-responders.
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Why is it important?
Thalidomide can reduce transfusion needs, but not every patient responds. Genetic markers could eventually help identify likely responders and spare others from ineffective treatment, although these associations require confirmation in larger and more diverse groups.
Perspectives
From my perspective, this work matters because Thalidomide can reduce transfusion needs, but not every patient responds. I hope the findings support further research and informed, evidence-based decisions.
Yasar Yousafzai
Khyber Medical University
Read the Original
This page is a summary of: Genetic modifiers of response to thalidomide in transfusion-dependent beta-thalassemia patients: a whole-exome sequence analysis, PeerJ, October 2025, PeerJ,
DOI: 10.7717/peerj.20038.
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