Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This review highlights recent advances in iron metabolism that are relevant to sickle cell disease (SCD). SCD is a common hemoglobinopathy that results in chronic inflammation. Improved understanding of how iron metabolism is controlled by proteins such as hepcidin, ferroportin, hypoxia-inducible factor 1, and growth differentiation factor 15 have revealed how they are involved in the organ toxicity of SCD. SCD patients have lower levels of non-transferrin-bound iron (NTBI) relative to other hemoglobinopathies, such as thalassemia. Care for SCD now commonly uses transfusion that results in iron overload and necessitates the need for chelation. New oral chelation therapy using deferasirox (Exjade/ICL670) appears to be safe and may even lower the amount of toxic free NTBI and enhance patient compliance. Finally, we suggest that iron metabolism and trafficking is different in SCD compared to other hemoglobinopathies. The high levels of inflammatory cytokines in SCD may enhance macrophage/reticuloendothelial cell iron and/or renal cell iron retention. This makes the tissues that retain iron different in SCD, and thus the organs that fail in SCD are different from those of other hemoglobinopathies, such as the cardiomyopathy or endocrinopathies of thalassemia.
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PMID:Iron metabolism and iron chelation in sickle cell disease. 1990 55

Dietary iron requirements in patients with sickle cell disease (SCD) remain unclear. SCD is a neglected hemoglobinopathy characterized by intense erythropoietic activity and anemia. Hepcidin is the hormone mainly responsible for iron homeostasis and intestinal absorption. Intense erythropoietic activity and anemia may reduce hepcidin transcription. By contrast, iron overload and inflammation may induce it. Studies on SCD have not evaluated the role of hepcidin in the presence and absence of iron overload. We aimed to compare serum hepcidin concentrations among individuals with sickle cell anemia, with or without iron overload, and those without the disease. Markers of iron metabolism and erythropoietic activity such as hepcidin, ferritin, and growth differentiation factor 15 were evaluated. Three groups participated in the study: the control group, comprised of individuals without SCD (C); those with the disease but without iron overload (SCDw); and those with the disease and iron overload (SCDio). Results showed that hepcidin concentration was higher in the SCDio > C > SCDw group. These data suggest that the dietary iron intake of the SCDio group should not be reduced as higher hepcidin concentrations may reduce the intestinal absorption of iron.
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PMID:Serum Hepcidin Concentration in Individuals with Sickle Cell Anemia: Basis for the Dietary Recommendation of Iron. 2967 44