Results 21 to 30 of about 15,219 (276)
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.
Scott A Fink, Raymond T Chung
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Acta Marisiensis - Seria Medica, 2022 Objective: Hereditary hemochromatosis, or primary hemochromatosis, is a recessive genetic liver disorder caused by iron accumulation in tissues. This study evaluates patients with hereditary hemochromatosis to determine correlations between clinical and ...
Sigmirean Victor
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Hemochromatosis - modern condition of the problem [PDF]
Терапевтический архив, 2018 The iron overload syndrome can be associated with various acquired states and hereditary factors. Hereditary hemochromatosis is the most common genetic disorder. Without therapeutic intervention the disease can lead to the development of life-threatening
N B Voloshina +3 more
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Journal of Medical Case Reports, 2020 Introduction Hereditary hemochromatosis is an inherited disorder of iron metabolism, characterized by excessive iron deposition in major organs of the body, leading to multi-organ dysfunction. It is a genetically heterogeneous disease caused by mutations
Wasanthi Wickramasinghe +3 more
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Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2016 To describe the clinical and laboratory features of hereditary hemochromatosis associated liver disease in a tertiary care hospital.Observational study.The Aga Khan University Hospital, Karachi, from January 2002 to October 2012.Charts of patients with Hereditary Hemochromatosis (HHC) were reviewed.
Parkash, Om, Akram, Muhammad
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Frontiers in Medicine, 2021 Hereditary hemochromatosis is a genetic iron overload disease related to a mutation within the HFE gene that controls the expression of hepcidin, the master regulator of systemic iron metabolism. The natural stable iron isotope composition in whole blood
Emmanuelle Albalat +5 more
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Pathophysiology of Hereditary Hemochromatosis [PDF]
Seminars in Liver Disease, 2005 Hereditary hemochromatosis (HH) encompasses several inherited disorders of iron homeostasis characterized by increased gastrointestinal iron absorption and tissue iron deposition. The most common form of this disorder is HFE-related HH, nearly always caused by homozygosity for the C282Y mutation.
Robert S. Britton +4 more
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Brazilian family with hyperferritinemia-cataract syndrome: case report
Einstein (São Paulo), 2022 Hereditary hyperferritinemia-cataract syndrome is a rare autosomal dominant disease caused by a genetic mutation in the iron responsive element in the 5’ untranslated region of the ferritin light chain gene. Hereditary hyperferritinemia-cataract syndrome
Aline Morgan Alvarenga +4 more
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Prognostic Factors and Survival in Patients with Hereditary Hemochromatosis and Cirrhosis
Canadian Journal of Gastroenterology, 2006 OBJECTIVES: The survival of treated, noncirrhotic patients with hereditary hemochromatosis is similar to that of the general population. Less is known about the outcome of cirrhotic hereditary hemochromatosis patients.
Melanie D Beaton, Paul C Adams
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Complete heart block with ventricular tachycardia in a patient with hemochromatosis
Saudi Journal of Medicine and Medical Sciences, 2014 Hereditary hemochromatosis is an inherited condition of dysregulated iron absorption, and usually presents with clinical features of hepatic dysfunction. Cardiac involvement as the presenting manifestation of hereditary hemochromatosis is rare. We report
Sajeer Kalathingathodika +3 more
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