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Genetic variability of TMPRSS6 and its association with iron deficiency anaemia
Author(s) -
Delbini Paola,
Vaja Valentina,
Graziadei Giovanna,
Duca Lorena,
Nava Isabella,
Refaldi Chiara,
Cappellini Maria D.
Publication year - 2010
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2010.08349.x
Subject(s) - tmprss6 , haplotype , genetics , biology , iron deficiency , single nucleotide polymorphism , hepcidin , gene , allele , genotype , serine protease , medicine , anemia , immunology , biochemistry , protease , inflammation , enzyme
Summary 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.