Results 11 to 20 of about 28,106 (200)
Revista Brasileira de Hematologia e Hemoterapia, 2012 Hereditary hemochromatosis (HH) is an autosomal recessive disorder classically related to HFE mutations. However, since 1996, it is known that HFE mutations explain about 80% of HH cases, with the remaining around 20% denominated non-HFE hemochromatosis.
Paulo Caleb Júnior de Lima Santos +5 more
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Clinics in Liver Disease, 2000 The recent cloning of the hemochromatosis gene (HFE) and the demonstration that a single missense mutation is responsible for 90% or more of patients with the disease, have stimulated renewed interest in all aspects of this common disease. The molecular tests for identifying mutations in HFE provide improved means for diagnosis, family screening, and ...
Powell, Lawrie W., Yapp, Thomas R.
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Diabetes in HFE Hemochromatosis [PDF]
Journal of Diabetes Research, 2017 Diabetes in whites of European descent with hemochromatosis was first attributed to pancreatic siderosis. Later observations revealed that the pathogenesis of diabetes in HFE hemochromatosis is multifactorial and its clinical manifestations are ...
James C. Barton, Ronald T. Acton
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Hemochromatosis and Heart Involvement
Архивъ внутренней медициныHemochromatosis 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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Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2006 ▪ Abstract In recent years, the number of proteins implicated in iron homeostasis has increased dramatically, and genetic causes have apparently been identified for the major disorders associated with tissue iron overload. These dramatic steps forward have transformed the way we look at iron-related disorders, particularly hemochromatosis.
PIETRANGELO, Antonello
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Hereditary hemochromatosis [PDF]
Autopsy and Case Reports, 2015 Hereditary hemochromatosis (HH) is the most commonly identified autosomal recessive genetic disorder in the white population, characterized by increased intestinal iron absorption and secondary abnormal accumulation in parenchymal organs, not infrequently accompanied by functional impairment.
Stephen A. Geller +1 more
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Annals of Internal MedicineHemochromatosis is an inheritable condition that mainly affects White populations of European descent. Most patients remain asymptomatic, but others develop advanced organ damage that reduces quality of life and long-term survival. Arthropathy, diabetes mellitus, cirrhosis, hypogonadotropic hypogonadism, and cardiomyopathy are key clinical ...
William C, Palmer +1 more
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Hemochromatosis: Hereditary hemochromatosis and HFE gene
, 2019 Hereditary Hemochromatosis (HH) is an autosomal recessive genetic disease, characterized by an excessively increased absorption of dietary iron. Excess iron can be accumulated because of the lack of an effective excretory mechanism leading to toxic effects. HH is one of the most common genetic disorders in individuals of European descent.
Katsarou, M.-S. +3 more
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Hemochromatosis Patients as Voluntary Blood Donors [PDF]
Canadian Journal of Gastroenterology, 2004 The present study was designed to investigate hemochromatosis patients' suitability as blood donors as well as their perceptions and experience with the current public donation system.
Tara E Power, Paul C Adams
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A Rare Presentation of Transfusional Hemochromatosis: Hypogonadotropic Hypogonadism [PDF]
Case Reports in Endocrinology, 2015 Hemochromatosis is a disease caused by extraordinary iron deposition in parenchymal cells leading to cellular damage and organ dysfunction. β-thalassemia major is one of the causes of secondary hemochromatosis due to regular transfusional treatment for ...
Rifki Ucler +6 more
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