Clinical and Experimental Pediatrics

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Original Article

Impact of Xmn1 polymorphism on hydroxyurea therapy in children with HbE-βnon-transfusion dependent thalassemia: a cohort study

Saheli Roy, Paramita Bhattacharya, Atanu Kumar Dutta, Mrinal Kanti Das

Background: Fetal hemoglobin (HbF) inducers, among which hydroxyurea is the most extensively used, have shifted the paradigm toward the treatment of non-transfusion-dependent thalassemia (NTDT). Xmn1 polymorphism (rs7482144) is characterized by substitution (C>T) at -158 position of the γ-globin gene, which leads to CC, CT, or TT genotype. Recently, the role of the Xmn1 polymorphism as a modifier of hydroxyurea therapy...

DOI: https://doi.org/10.3345/cep.2024.01284 [Accepted]

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