Celiac disease (CD), a common chronic autoimmune enteropathy, frequently presents iron deficiency anemia (IDA), which usually reverts with a gluten-free diet (GFD). Some patients present persistent IDA despite their clinical responsiveness to GFD. The contributions of malabsorption, inflammation, or genetics to CD-associated IDA remain unclear. The TMPRSS6 gene encodes for matriptase-2, which plays a crucial role in iron homeostasis by regulating its absorption through its negative effect on hepcidin. Rare TMPRSS6 gene mutations cause iron-refractory iron-deficiency anemia. TMPRSS6 polymorphisms are associated with increased risk of iron deficiency (ID) and the rs855791 variant deregulates the status of iron leading to a reduced erythrocyte mean cell volume. An association between the TMPRSS6 variant rs855791 and IDA in autoimmune syndromes has shown, suggesting a role of TMPRSS6 variants in this setting.

Does TMPRSS6 RS855791 Polymorphism Contribute to Iron Deficiency in Treated Celiac Disease?

CAMPOSTRINI, Natascia;GIRELLI, Domenico;
2015

Abstract

Celiac disease (CD), a common chronic autoimmune enteropathy, frequently presents iron deficiency anemia (IDA), which usually reverts with a gluten-free diet (GFD). Some patients present persistent IDA despite their clinical responsiveness to GFD. The contributions of malabsorption, inflammation, or genetics to CD-associated IDA remain unclear. The TMPRSS6 gene encodes for matriptase-2, which plays a crucial role in iron homeostasis by regulating its absorption through its negative effect on hepcidin. Rare TMPRSS6 gene mutations cause iron-refractory iron-deficiency anemia. TMPRSS6 polymorphisms are associated with increased risk of iron deficiency (ID) and the rs855791 variant deregulates the status of iron leading to a reduced erythrocyte mean cell volume. An association between the TMPRSS6 variant rs855791 and IDA in autoimmune syndromes has shown, suggesting a role of TMPRSS6 variants in this setting.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11562/868776
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