Case study of hereditary haemochromatosis

Professional Reference articles are designed for health professionals to use. You may find the Haemochromatosis article more useful, or one of our other health articles. NICE has issued rapid update guidelines in relation to many of these. This guidance is changing frequently.
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Homozygous form of hereditary hemochromatosis in a patient with beta-thalassemia minor: case report

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Hereditary Hemochromatosis - Hematology and Oncology - Merck Manuals Professional Edition

Medicare results predicted that the susceptibility of hereditary hemochromatosis had increased from 14, in the year to about 30, in the year About 1 in Australians have been predicted to have copies of the CY homozygous gene mutations to date. Early manifestations of the condition begin to show in the third stage of an individual's life and are more severe in individuals in their sixth stage of life. One-third of men develop abnormal genes, whereas only one in every a hundred women develops the condition. Men are screened from the age of thirty years, whereas women are tested from the age of 45 years. Delayed onset of symptoms in women is as a result of increased metabolic demand, loss of blood from their regular menstruation and pregnancy. Essay Kitchen.
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Hereditary hemochromatosis: a case study and review

Hereditary hemochromatosis is a genetic disorder characterized by excessive iron Fe accumulation that results in tissue damage. Manifestations can include systemic symptoms, liver disorders, cardiomyopathy, diabetes, erectile dysfunction, and arthropathy. Diagnosis is by elevated serum ferritin, iron, and transferrin saturation levels and confirmed by a gene assay.
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Hereditary hemochromatosis HH is an autosomal recessive disorder of iron metabolism characterized by increased iron absorption and tissue deposition. It is well established that the phenotypic expression of HFE mutations varies markedly. Herein, we describe a year-old Caucasian woman with a reported history of hemochromatosis. The father of the patient had died of complications due to iron overload. The patient had significantly elevated transferrin saturation TS and serum ferritin SF levels.
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