Genetic variability of TMPRSS6 and its association with iron deficiency anaemia

Paola Delbini, Valentina Vaja, Giovanna Graziadei, Lorena Duca, Isabella Nava, Chiara Refaldi, Maria D. Cappellini

Research output: Contribution to journalArticlepeer-review


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

Original languageEnglish
Pages (from-to)281-284
Number of pages4
JournalBritish Journal of Haematology
Issue number3
Publication statusPublished - Nov 2010


  • Anaemia
  • Haplotype
  • Iron

ASJC Scopus subject areas

  • Hematology


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