Albertine E Donker, Charlotte C M Schaap, Vera M J Novotny, Roel Smeets, Tessa M A Peters, Bert L P van den Heuvel, Martine F Raphael, Anita W Rijneveld, Inge M Appel, Andre J Vlot, A Birgitta Versluijs, Michel van Gelder, Bernd Granzen, Mirian C H Janssen, Alexander J M Rennings, Frank L van de Veerdonk, Paul P T Brons, Dirk L Bakkeren, Marten R Nijziel, L Thom Vlasveld, Dorine W Swinkels
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 correlation, and optimal clinical management. We describe 14 different TMPRSS6 variants, of which 9 are novel, in 21 phenotypically affected IRIDA patients from 20 families living in the Netherlands; 16 out of 21 patients were female...
December 2016: American Journal of Hematology