Article
Administration of recombinant erythropoietin alone does not improve the phenotype in iron refractory iron deficiency anemia patients.
Annals of hematology - 1 Mar 2013
Lehmberg Kai, Grosse Regine, Muckenthaler Martina U, Altamura Sandro, Nielsen Peter, Schmid Hansjörg, Graubner Ulrike, Oyen Florian, Zeller Wolfgang, Schneppenheim Reinhard, Janka Gritta E
Abstract excerpt
Mutations in transmembrane protease, serine 6 (TMPRSS6) cause iron refractory iron deficiency anemia (IRIDA). Parenteral iron administration may slightly improve hemoglobin level but is troublesome for patients. Optimal treatment has yet to be determined. We identified five patients from four independent families displaying the IRIDA picture with truncating biallelic mutations in TMPRSS6, one of which is novel....
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