HAMP, hepcidin antimicrobial peptide, 57817

N. diseases: 377; N. variants: 15
Disease: beta Thalassemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 Biomarker disease BEFREE Correction of unbalanced iron absorption and recycling by induction of hepcidin synthesis or treatment with hepcidin mimetics ameliorates β-thalassemia. 31638596 2019
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 Biomarker disease BEFREE The results support proposals that over-suppression of hepcidin seen in beta-thalassemia/Hb E patients is a consequence of the increased mass of erythropoiesis and not defects in the signaling process per se. 29157161 2018
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 Biomarker disease BEFREE Hepcidin suppression in β-thalassemia is associated with the down-regulation of atonal homolog 8. 28405918 2017
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 Biomarker disease BEFREE Disturbances in the regulation of hepcidin contribute to the pathogenesis of many iron disorders: hepcidin deficiency causes iron overload in hereditary hemochromatosis and nontransfused β-thalassemia, whereas overproduction of hepcidin is associated with iron-restricted anemias seen in patients with chronic kidney disease, chronic inflammatory diseases, some cancers, and inherited iron-refractory iron deficiency anemia. 28096133 2017
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 Biomarker disease BEFREE Recent studies established that hypoxia and/or hypoxia-induced erythropoietin are not direct regulators of hepcidin, which is indirectly inhibited by erythropoietic drive, in particular under pathological conditions characterized by expanded but ineffective erythropoiesis, such as β-thalassemia. 28629515 2017
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 Biomarker disease BEFREE Iron overload [serum ferritin (SF) ≥ 1500 ng/ml] was independently associated with TM (p = 0.001) and elevated serum hepcidin (p = 0.02). 28600663 2017
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 Biomarker disease BEFREE Insufficient hepcidin is implicated in parenchymal iron overload in β-thalassemia and approaches to increase hepcidin have therapeutic potential. 26635037 2016
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 Biomarker disease BEFREE Dysregulation of hepcidin gives rise to disordered iron homeostasis, associated with diverse diseases including anemia and β-thalassemia. 25686467 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 Biomarker disease BEFREE Hepcidin and other measured biochemical parameters were compared between the TM patients (100) and healthy children (37). 25923089 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 AlteredExpression disease BEFREE Hepcidin expression from monocyte of splenectomized and non-splenectomized patients with HbE-β-thalassemia. 23905873 2014
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 Biomarker disease BEFREE Misregulation of hepcidin is found in many disease states, such as the anemia of chronic disease, iron refractory iron deficiency anemia, cancer, hereditary hemochromatosis, and ineffective erythropoiesis, such as β-thalassemia. 23722909 2013
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 Biomarker disease BEFREE The goal of this paper is to review recent findings that correlate hepcidin, Hfe, and iron metabolism in beta-thalassemia and to discuss potential novel therapeutic approaches based on these recent discoveries. 20712796 2010
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 GeneticVariation disease BEFREE Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major. 19734422 2009
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 AlteredExpression disease BEFREE In contrast, hepcidin levels were elevated in thalassemia major, presumably due to transfusions that reduce erythropoietic drive and deliver a large iron load. 17488680 2007
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 AlteredExpression disease BEFREE Hypertransfusional (>8 transfusions/year) iron in liver biopsies collected immediately after transfusions in beta-thalassemia and sickle cell disease correlated with increased expression (RNA) for iron regulatory proteins 1 and 2 (3-, 9- to 11-fold) and hepcidin RNA: (5- to 8-fold) (each p <.01), while ferritin H and L RNA remained constant. 17613866 2007
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 Biomarker disease CTD_human The hepatic peptide hepcidin, a key regulator of iron metabolism in mammals, was recently found to be low in the urine of beta-thalassemia patients, compared with healthy controls, despite their iron overload. 16755567 2006
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 AlteredExpression disease BEFREE We evaluated the effect of iron overload and of ineffective erythropoeisis on hepcidin expression in patients with thalassemia major. 16769583 2006
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 AlteredExpression disease BEFREE In a mouse model of beta-thalassaemia, we observed that the liver expressed relatively low levels of hepcidin, which is a key factor in the regulation of iron absorption by the gut and of iron recycling by the reticuloendothelial system. 16939499 2006
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 AlteredExpression disease BEFREE We found decreased expression of hepcidin and TfR2 and increased expression of TfR1 and NGAL in the beta-thalassemia mouse models, compared with the control mice. 16755567 2006
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 Biomarker disease BEFREE The aim of this study is to investigate Hamp in the mouse model of beta-thalassemia and to address the potential gene transfer of Hamp to prevent abnormal iron absorption. 16339690 2005