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Other gene mutations include those in the: HJV gene (hemojuvelin ) HAMP gene (hepcidin) TFR2 gene (transferrin receptor-2) SLC40A1 gene (ferroportin disease) FTH1 gene (mutation in the iron responsive element of H-ferritin ( FTH1 ) mRNA) Transfusional iron overload: Transfusional iron overload typically affects patients with hematologic disorders who require chronic red blood cell (RBC) transfusions, such as: Transfusion-dependent thalassemia Sickle cell disease Myelodysplastic syndrome (MDS) Ineffective erythropoiesis: Expanded erythroid marrow of patients with ineffective erythropoiesis results in erythroblast-mediated release of which inhibits the synthesis of hepcidin in the liver, resulting in increased iron absorption in the gut
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