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Article

Evaluation of the genetic basis of phenotypic heterogeneity in north Indian patients with thalassemia major.

European journal of haematology - 1 Jun 2010

Sharma Nidhi, Das Reena, Kaur Jasbir, Ahluwalia Jasmina, Trehan Amita, Bansal Deepak, Panigrahi Inusha, Marwaha Ram Kumar

Abstract excerpt

OBJECTIVES: To assess the molecular basis of phenotypic heterogeneity in north Indian patients with thalassemia major (TM). METHODS: To determine the clinical severity, 130 patients of TM were studied for the age of first presentation and frequency of blood transfusion. The type of beta mutations, Xmn-1(G)gamma polymorphism and G6PD Mediterranean mutation was characterized. Analysis of the phenotypic presentation...

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PMID: 20132300
DOI: 10.1111/j.1600-0609.2010.01422.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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