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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Variants in genetic modifiers of β-Thalassemia can help to predict the major or intermedia type of the disease
Haematologica, Volume 96, No. 11, Year 2011
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Description
A cohort of 106 patients included in the French National Registry for Thalassemia were genotyped for 5 genetic modifiers of severity: i) b-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 associated with the different combinations of alleles. The presence or absence of the favorable alleles could accurately predict the type of thalassemia in 83.2% of the cases. The percentage of correct predictions made from the β-thalassemia mutations and the XmnI SNP alone were significantly improved by the adjustment with the 3 other modifiers; from 73.6% to 83.2% (P<0.001). In this study, we showed that predictions based on genetic modifiers can foresee the Major or Intermedia type of β-thalassemia, even in cohorts of patients with various β-globin genotypes. ©2011 Ferrata Storti Foundation.
Authors & Co-Authors
Badens, Catherine
France, Marseille
Hopital la Timone
Joly, Philippe
France, Lyon
Hopital Edouard Herriot
Agouti, Imane
France, Marseille
Hopital la Timone
Thuret, Isabelle
France, Marseille
Hopital la Timone
Fattoum, Slaheddine
France, Marseille
Hopital la Timone
Francina, Alain
France, Lyon
Hopital Edouard Herriot
Siméoni, Marie Claude
France, Marseille
Ap-hm Assistance Publique - Hôpitaux de Marseille
Loundou, Anderson Dieudonné
France, Marseille
Ap-hm Assistance Publique - Hôpitaux de Marseille
Pissard, Serge
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Statistics
Citations: 74
Authors: 9
Affiliations: 4
Identifiers
Doi:
10.3324/haematol.2011.046748
ISSN:
15928721
Research Areas
Genetics And Genomics
Study Design
Cohort Study