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Iron refractory iron deficiency anemia: a heterogeneous disease that is not always iron refractory

19 Sept 2016

Abstract excerpt

TMPRSS6 variants that affect protein function result in impaired matriptase-2 function and consequently uninhibited hepcidin production, leading to iron refractory iron deficiency anemia (IRIDA). This disease is characterized by microcytic, hypochromic anemia and serum hepcidin values that are inappropriately high for body iron levels. Much is still unknown about its pathophysiology, genotype-phenotype...

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Share to Erythrocyte Function and Pathophysiology
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PMID: 27643674
DOI: 10.1002/ajh.24561

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