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It is currently unknown if the increase of the hepatic iron regulatory hormone hepcidin during inflammation in man depends on an intact HFE-protein. Here we describe the temporal relationship of serum hepcidin, serum iron and cytokines in a patient with ...
Marcel van Deuren +2 more
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Molecular basis of the non-classical hereditary hemochromatosis in Portugal [PDF]
A Hemocromatose Hereditária (HH) é uma doença autossómica recessiva caracterizada pela absorção excessiva de ferro a nível intestinal e sua acumulação em órgãos vitais, podendo originar cardiomiopatia, cirrose e carcinoma hepatocelular.
Esteves, Jorge +11 more
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Hemochromatosis is a prevalent hereditary disorder that causes excess iron to build up in the body to dangerous levels. Hereditary hemochromatosis, also known as HFE-related hemochromatosis is carried on by changes in the HFE gene.
Thanaa Kalil Ibrahim +3 more
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Prevalence of alpha-1 antitrypsin deficiency and hereditary hemochromatosis gene mutations in Algarve, Portugal [PDF]
Alpha-1 antitrypsin (AAT) deficiency and hereditary hemochromatosis (HH) are two of the most fatal genetic disorders in adult life, affecting million individuals worldwide.
Barreto da Silva, Marta +9 more
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Hemochromatosis and Heart Involvement
Hemochromatosis is a life-threatening condition if left untreated, that is caused by excess iron in the body. It can be primary (hereditary) hemochromatosis, resulting from genes mutations, and secondary (acquired) as a result of excessive intake of iron
E. V. Reznik +3 more
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Examining the Clinical Use of Hemochromatosis Genetic Testing
BACKGROUND: Hereditary hemochromatosis leads to an increased lifetime risk for end-organ damage due to excess iron deposition. Guidelines recommend that genetic testing be performed in patients with clinical suspicion of iron overload accompanied by ...
Matthew B Lanktree +5 more
doaj +1 more source
HEREDITARY HEMOCHROMATOSIS: A RARE DISEASE OR A DIFFICULT DIAGNOSIS FOR A GENERAL PRACTITIONER?
Hemochromatosis is a hereditary disease belonging to the group of storage diseases characterized by impaired iron metabolism with its pathological accumulation in vital organs, including the liver.
Александра Валерьевна Морозова +2 more
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Bronze Diabetes in Congenital Dyserythropoietic Anemia Type 2: A Case Report
Secondary diabetes is caused by endocrine, pancreatic or hereditary disorders or certain medications which affect insulin secretion or action or both.
Samuel Sathweek Rayapati +4 more
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Hiperferitinemija u bolesnika s presatkom bubrega [PDF]
The principal iron storage protein is ferritin, which is primarily present in cytoplasm. The most common cause of hyperferritinemia is iron overload, which is either primary or secondary.
Ivana Jurić +2 more
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HLA and hemochromatosis disease association in São Miguel Island [PDF]
Mestrado em Biologia Molecular e CelularA hemocromatose hereditária uma doença autossómica recessiva do metabolismo do ferro, geralmente associada à mutação C282Y no gene HFE. Presume-se que a origem desta mutação tenha ocorrido por acaso no haplótipo
Gomes, Cidália Maria Teixeira
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