Very high frequency of TMPRSS6 gene variations in iron deficiency anaemia of patients with polyendocrine autoimmune syndromes: More than a casual association?

British Journal of Haematology

Volumn 161, Issue 1, 2013, Pages 147-150

  Canavese, Caterina ^a   Quaglia, Marco ^a   Izzo, Cristina ^a   Nava, Isabella ^b   Duca, Lorena ^b   Cappellini, Maria Domenica ^b   Stratta, Piero ^a  

^a UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

Author keywords

Anaemia; Autoimmune disease; Iron deficiency; TMPRSS6

Indexed keywords

ADENINE; GENOMIC DNA; GUANINE; IRON; MATRIPTASE; PARIETAL CELL ANTIBODY; PROTEIN TMPRSS6; THYROGLOBULIN ANTIBODY; THYROID PEROXIDASE ANTIBODY; UNCLASSIFIED DRUG; VALINE;

ADULT; CAUCASIAN; CLINICAL ARTICLE; DNA ISOLATION; DRUG TREATMENT FAILURE; EXON; FEMALE; GASTRITIS; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IRON DEFICIENCY ANEMIA; LABORATORY TEST; LETTER; MICROCYTOSIS; MULTIPLE ENDOCRINE ADENOMATOSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM; THYROID DISEASE; TMPRSS6 GENE;

ADULT; ANEMIA, IRON-DEFICIENCY; FEMALE; HUMANS; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; POLYENDOCRINOPATHIES, AUTOIMMUNE; SERINE ENDOPEPTIDASES;

EID: 84875056589     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/bjh.12200     Document Type: Letter

References (10)

1. Betterle, C. & Zanchetta, R. (2003) Update on autoimmune polyendocrine syndromes (APS). Acta Biomedicine, 74, 9-33.
2. Checchi, S., Montanaro, A., Ciuoli, C., Brusco, L., Pasqui, L., Fioravanti, C., Sestini, F. & Pacini, F. (2010) Prevalence of parietal cell antibodies in a large cohort of patients with autoimmune thyroiditis. Thyroid, 20, 1385-1389.
3. Eisenbarth, G.S. & Gottlieb, P.A. (2004) Autoimmune polyendocrine syndromes. New England Journal of Medicine, 350, 2068-2079.
4. Finberg, K.E., Heeney, M.M., Campagna, D.R., Aydinok, Y., Pearson, H.A., Hartman, K.R., Mayo, M.M., Samuel, S.M., Strouse, J.J., Markianos, K., Andrews, N.C. & Fleming, M.D. (2008) Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nature Genetics, 40, 569-571.
5. Hershko, C. & Skikne, B. (2009) Pathogenesis and management of iron deficiency anemia:emerging role of celiac disease, helicobacter pylori, and autoimmune gastritis. Semin Hematology, 46, 339-350.
6. Pellegrino, R.M., Coutinho, M., D'Ascola, D., Lopes, A.M., Palmieri, A., Carnuccio, F., Costa, M., Zecchina, G., Saglio, G., Costa, E., Barbot, J., Porto, G., Pinto, J.P. & Roetto, A. (2012) Two novel mutations in the tmprss6 gene associated with iron-refractory iron-deficiency anaemia (IRIDA) and partial expression in the heterozygous form. British Journal of Haematology, 158, 668-672.
7. Ramsay, A.J., Quesada, V., Sanchez, M., Garabaya, C., Sardà, M.P., Baiget, M., Remacha, A., Velasco, G. & López-Otín, C. (2009) Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms. Human Molecular Genetics, 18, 3673-3683.
8. Sterzl, I., Hrdá P, M., P, C.J. & Zamrazil, V. (2008) Anti-Helicobacter Pylori, antithyroid peroxidase, anti-thyroglobulin and anti-gastric parietal cells antibodies in Czech population. Physiological Research, 57, S135-S141.
9. Tchou, I., Diepold, M., Pilotto, P.A., Swinkels, D., Neerman-Arbez, M. & Beris, P. (2009) Haematologic data, iron parameters and molecular findings in two new cases of ironrefractory iron deficiency anaemia. European Journal of Haematology, 83, 595-602.
10. Tozzoli, R., Kodermaz, G., Perosa, A.R., Tampoia, M., Zucano, A., Antico, A. & Bizzaro, N. (2010) Autoantibodies to parietal cells as predictors of atrophic body gastritis: a five-yearprospective study in patients with autoimmune thyroid diseases. Autoimmunity Reviews, 10, 80-83.