Article
Variants in genetic modifiers of β-thalassemia can help to predict the major or intermedia type of the disease.
Haematologica - 1 Nov 2011
Badens Catherine, Joly Philippe, Agouti Imane, Thuret Isabelle, Gonnet Katia, Fattoum Synda, Francina Alain, Simeoni Marie-Claude, Loundou Anderson, Pissard Serge
Abstract excerpt
A cohort of 106 patients included in the French National Registry for Thalassemia were genotyped for 5 genetic modifiers of severity: i) β-thalassemia mutations; (ii) the XmnI SNP; (iii) the -3.7 kb α-thal deletion; (iv) the tag-SNP rs 11886868 in BCL11A exon 2; and (v) the tag-SNP rs9399137 in the HBSB1L-cMYB inter-region. Multivariate analysis was performed to study the risk of thalassemia Intermedia phenotype...
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