Genetic variability of TMPRSS6 and its association with iron deficiency anaemia.

@article{Delbini2010GeneticVO,
  title={Genetic variability of TMPRSS6 and its association with iron deficiency anaemia.},
  author={Paola Delbini and Valentina Vaja and G Graziadei and Lorena Duca and Isabella Nava and Chiara Refaldi and Maria Domenica Cappellini},
  journal={British journal of haematology},
  year={2010},
  volume={151 3},
  pages={281–4}
}
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… CONTINUE READING
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