Transmembrane Protease, Serine 6 (TMPRSS6) 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. This study sequenced the TMPRSS6 gene in 16 subjects with IRIDA phenotype and identified 27 DNA polymorphisms. Eight single nucleotide polymorphisms 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 and IRIDA.

Genetic variability of TMPRSS6 and its association with iron deficiency anaemia / P. Delbini, V. Vaja, G. Graziadei, L. Duca, I. Nava, C. Refaldi, M. D. Cappellini. - In: BRITISH JOURNAL OF HAEMATOLOGY. - ISSN 0007-1048. - 151:3(2010 Nov), pp. 281-284. [10.1111/j.1365-2141.2010.08349.x]

Genetic variability of TMPRSS6 and its association with iron deficiency anaemia

P. Delbini
Primo
;
V. Vaja
Secondo
;
G. Graziadei;L. Duca;I. Nava;M.D. Cappellini
Ultimo
2010-11

Abstract

Transmembrane Protease, Serine 6 (TMPRSS6) 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. This study sequenced the TMPRSS6 gene in 16 subjects with IRIDA phenotype and identified 27 DNA polymorphisms. Eight single nucleotide polymorphisms 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 and IRIDA.
Settore MED/09 - Medicina Interna
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/148571
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