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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease hemochromatosis
Symptom C0282193|iron overload
Sentences 25
PubMedID- 25454304 hemochromatosis is associated with iron overload, and can initially be recognized through laboratory testing for serum ferritin and transferrin saturation.
PubMedID- 22659521 We found no evidence that red blood cell concentrates from hemochromatosis patients without complications of iron overload do not comply with the physiological quality requirements for transfusion, nor that their blood would present a greater risk to recipient safety than blood from non-hemochromatosis donors.
PubMedID- 24993364 Methods: we conducted a systematic review and meta-analysis to investigate the diagnostic accuracy of mri in identifying liver iron overload in patients with hereditary hemochromatosis, hemoglobinopathy, or myelodysplastic syndrome; liver biopsy analysis was used as the reference standard.
PubMedID- 20640879 iron overload in patients with hereditary hemochromatosis results in iron depots in the pancreas, liver, joints and heart.
PubMedID- 24152754 The increased risk of developing hepatocellular carcinoma in hereditary hemochromatosis has been associated with hepatic iron overload .
PubMedID- 25878400 iron overload associated with hereditary hemochromatosis has been reported to confer susceptibility to infectious pathogens, such as yersinia enterocolitica and vibrio vulnificus .
PubMedID- 23728724 Naive haemochromatosis patients with iron overload and with c282y and/or h63d hfe mutations were evaluated at the following time-points: disease diagnosis, end of the therapy programme, and 6 months after the end of therapy.
PubMedID- 22752055 Impaired glucose metabolism and diabetes mellitus are common clinical manifestations of iron overload in patients with haemochromatosis 1, a disorder of abnormal iron absorption resulting in the progressive accumulation of iron in inner organs.
PubMedID- 22961825 Hypogonadism is a potential complication of haemochromatosis, usually seen in patients with severe iron overload and liver cirrhosis.
PubMedID- 24348636 Case reports have shown that iron overload and diagnosis of hereditary hemochromatosis often follows successful celiac treatment (34, 35).
PubMedID- 26183747 Reticuloendothelial iron overload is associated with secondary hemochromatosis including repeated transfusions and iron over-supplementation.
PubMedID- 26266058 Hypogonadism is one of the potential complications of hemochromatosis, usually seen in patients with a severe iron overload, and it shows an association with diabetes and cirrhosis in adult patients.
PubMedID- 22347914 8a 51-year-old man with myocardial iron overload due to haemochromatosis and preserved systolic function.
PubMedID- 20408179 Even though hemochromatosis is associated with iron overload and dysfunction of a variety of systemic organs, little is known on the effects of this disease on the retina.
PubMedID- 21538285 There is also a significant variability in the expression of iron overload in patients with genetic hemochromatosis that are homozygous for the c282y mutation.
PubMedID- 24527451 The iron overload associated with hemochromatosis in peripheral tissue is also not convincingly linked to pd.
PubMedID- 21055653 The mainstay therapies for iron overload associated with primary hemochromatosis and secondary iron overload is phlebotomy and iron chelation therapy, respectively.
PubMedID- 19892936 To test the hypothesis that differences in duodenal iron absorption may explain the variable phenotypic expression among hfe c282y homozygotes, we have compared relative gene expression of duodenal iron transporters among c282y homozygotes hereditary hemochromatosis (hh) with and without iron overload.
PubMedID- 21357408 Excessive iron is also proangiogenic, and hemochromatosis is associated with iron overload.
PubMedID- 21908766 Hereditary hemochromatosis is traditionally associated with hepatic iron overload.
PubMedID- 22666259 In addition, cardiac arrhythmias were not solely related to iron overload in patients with hemochromatosis .
PubMedID- 24860505 A mutation in the proximal bmp-re was associated with a more severe iron overload phenotype in a patient with classical hfe hemochromatosis, demonstrating its importance in hepcidin regulation in humans (island et al., 2009).
PubMedID- 25413608 Background: phlebotomy represents the standard treatment option for iron overload in hemochromatosis (hc).
PubMedID- 22045566 iron overload is the hallmark of hereditary hemochromatosis and a complication of iron-loading anemias such as beta-thalassemia.
PubMedID- 22395570 Deferasirox was shown to reduce iron overload in patients with hemochromatosis and may be an option for patients who cannot tolerate phlebotomy.

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