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 ...
Geller, Stephen A.+1 more
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Case report: A rare case of hereditary hemochromatosis caused by a mutation in the HAMP gene in Fuyang, China [PDF]
Hemochromatosis, also known as siderosis, is a disease caused by excessive iron deposition in human organs and tissues, resulting from iron metabolism disorders.
Jinling Wang+9 more
doaj +2 more sources
Hereditary hemochromatosis: An opportunity for gene therapy [PDF]
Levels of body iron should be tightly controlled to prevent the formation of oxygen radicals, lipoperoxidation, genotoxicity, and the production of cytotoxic cytokines, which result in damage to a number of organs.
FERNANDO EZQUER+4 more
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Hereditary Hemochromatosis: A Cardiac Perspective [PDF]
Hereditary hemochromatosis (HH) is a common genetic metabolic disorder characterized by excessive iron absorption and elevated serum iron levels, which accumulate in various organs, such as the heart, pancreas, gonads, and damage these organs. There are only a few articles and clinical studies describing the characteristics of cardiac involvement in HH
Diana I. Zamora+8 more
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Hepatocarcinoma with tumor thrombus occupying the right atrium and portal vein in a patient with hereditary hemochromatosis and liver cirrhosis [PDF]
We present the case of a 46-year old patient with Child-Pugh class C cirrhosis with MEDL-Score 16, and hepatocellular carcinoma invading the inferior vena cava and the right atrium.
Breaban, Iulia+11 more
core +4 more sources
Severe osteoporosis as atypical presentation of hereditary hemochromatosis [PDF]
Besides important metabolic repercussions, iron overload is reported to be associated with deleterious effects on articulations and bones. We present the case of a male patient diagnosed with severe osteoporosis and vertebral fracture, in whom the ...
Georgiana Cristina Taujan+5 more
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Asymptomatic hemochromatosis case with HFE c.1007?47G>A, c.340+4T>C heterozygous mutations and alpha globin ?3.7?kb deletion [PDF]
Background Hereditary hemochromatosis is a disease associated with iron deposition which is caused by the mutations in “hereditary Fe (iron)” (HFE) gene.
Adams+20 more
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Study of total stimulated saliva flow and hyperpigmentation in the oral mucosa of patients diagnosed with hereditary hemochromatosis. Series of 25 cases [PDF]
Objective: To study lesions in the oral cavity of patients with hereditary hemochromatosis and determine their association with iron overload. Study Design: We took a clinical history, examined the pigmentation of the oral mucosa, and measured total ...
del Castillo Rueda, Alejandro+2 more
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Incorrect diagnosis of hereditary hemochromatosis [PDF]
Oksana Mirochnik+4 more
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Iron Metabolism in the Disorders of Heme Biosynthesis
Given its remarkable property to easily switch between different oxidative states, iron is essential in countless cellular functions which involve redox reactions. At the same time, uncontrolled interactions between iron and its surrounding milieu may be
Andrea Ricci+5 more
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