Cause | Mechanism |
Increased intake | |
Transfusional overload (eg, in inherited bone marrow failure syndromes, hemolytic anemias, myelodysplastic syndrome, aplastic anemia) | Iatrogenic, used to treat severe anemia |
Iron-loaded diet (eg, "African iron overload") | Dietary, from iron in barrels used to store homemade beer; may have genetic component |
Repeated hemin infusions (eg, to treat acute intermittent porphyria) | Iatrogenic, used to treat acute porphyric attacks |
Increased absorption (with normal intake) | |
Hereditary hemochromatosis due to homozygosity for HFE C282Y | Reduced hepcidin |
Non-HFE hemochromatosis due to pathogenic variants affecting ferroportin (SLC40A1C gene), hemojuvelin (HJV gene), hepcidin (HAMP gene), and transferrin receptor 2 (TFR2 gene) | Alterations in known regulators of intestinal iron absorption |
Thalassemia major or intermedia | Ineffective erythropoiesis leading to suppression of hepcidin; transfusional iron overload may also contribute |
Sideroblastic anemia (inherited or acquired) | Ineffective erythropoiesis leading to suppression of hepcidin |
Inherited anemias (eg, CDA, DBA) | Ineffective erythropoiesis leading to suppression of hepcidin |
Gestational alloimmune liver disease (GALD)* | Maternal alloantibody causing liver injury in utero |
Chronic liver disease, especially alcohol-associated fatty liver disease, chronic hepatitis, and metabolic dysfunction-associated steatotic liver disease (previously called NAFLD) | Incompletely understood, possible reduced hepcidin production? |
CDA: congenital dyserythropoietic anemia; DBA: Diamond-Blackfan anemia; HFE: hereditary hemochromatosis gene; NAFLD: nonalcoholic fatty liver disease.
* Many cases of GALD were previously called neonatal hemochromatosis; however, the conditions are not synonymous.آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟