GENETIC VARIABILITY OF TMPRSS6 GENE AND ITS ASSOCIATION WITH IRON DEFICIENCY ANAEMIA

Paola Delbini (1) , Valentina Vaja (2) , Giovanna Graziadei (2) , Lorena Duca (2) , Isabella Nava (2) , Chiara Refaldi (2) , Maria Domenica Cappellini (2)

1 Internal Medicine
2 Internal Medicine

TMPRSS6 (Transmembrane Protease, Serine 6) has an important role in iron homeostasis and its mutations, performed in TMPRSS6-deficient mice, have been recently associated with iron-refractory iron deficiency anaemia (IRIDA). Several variants of TMPRSS6 have been already identified; however the role of polymorphisms and TMPRSS6 haplotypes, causing iron deficiency anaemia, have not yet been investigated. In this study TMPRSS6 gene was sequenced in 16 subjects with IRIDA phenotype. We identified twenty-seven DNA polymorphisms. Eight SNPs and four haplotypes were significantly associated with iron-refractory anaemia (p<0.001). Our preliminary results suggest a possible association between specific haplotypes of TMPRSS6 gene and IRIDA.

Mots clés: Medicine

Paola Delbini, Valentina Vaja, Giovanna Graziadei, Lorena Duca, Isabella Nava, et al.. GENETIC VARIABILITY OF TMPRSS6 GENE AND ITS ASSOCIATION WITH IRON DEFICIENCY ANAEMIA. British Journal of Haematology, 2010, 151 (3), pp.281. ⟨10.1111/j.1365-2141.2010.08349.x⟩. ⟨hal-00569411⟩