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Hemochromatosis

Medical Clinics of North America, 1989
This article discusses the pathophysiology and clinical manifestations of idiopathic and secondary hemochromatosis. Pedigree studies documenting the hereditary evidence for hemochromatosis are discussed. Current theories for the molecular mechanisms that result in iron overload are presented.
H K, Holland, J L, Spivak
openaire   +2 more sources

Hemochromatosis

Clinics in Liver Disease, 2004
Hemochromatosis is a common genetic disease with a wide range of clinical expression: from no symptoms to cirrhosis of the liver. The discovery of the gene has led to a genetic blood test useful in the diagnosis of hemochromatosis. Treatment by phlebotomy is simple and efficient and can prevent the development of cirrhosis, leading to a normal life ...
openaire   +4 more sources

Management of hemochromatosis

Annals of Internal Medicine, 1998
The complications of iron overload in hemochromatosis can be avoided by early diagnosis and appropriate management. Therapeutic phlebotomy is used to remove excess iron and maintain low normal body iron stores, and it should be initiated in men with serum ferritin levels of 300 microg/L or more and in women with serum ferritin levels of 200 microg/L or
Sharon M. McDonnell   +7 more
openaire   +3 more sources

Molecular pathogenesis of hereditary hemochromatosis.

Histology and Histopathology, 2016
Hereditary hemochromatosis (HH) is an inherited iron overload disorder characterized by normal iron-driven erythropoiesis and abnormal iron metabolism, leading to excess iron deposited in parenchymal cells of liver, heart, and endocrine glands.
Jingqi Liu   +5 more
semanticscholar   +1 more source

Screening for hemochromatosis

Clinica Chimica Acta, 2002
Hereditary hemochromatosis is the most common autosomal recessive disorder in populations of northern European descent.Many experts consider hemochromatosis to be an almost ideal disease for population screening because it essentially fulfills almost all the criteria for screening proposed by the WHO. However, others disagree and suggest that more data
McCullen, MA, Crawford, DHG, Hickman, PE
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Screening for Hemochromatosis

New England Journal of Medicine, 1993
In the United States the average daily intake of dietary iron ranges from 10 to 30 mg, but only about 1 mg is absorbed, to balance precisely the loss due to the sloughing of intact cells containing iron. Iron absorption can be increased if iron stores are depleted (usually through blood loss), and in genetically normal people absorption decreases with ...
Jane F. Desforges   +2 more
openaire   +5 more sources

Genetics of Hemochromatosis

Annual Review of Medicine, 1999
Hereditary hemochromatosis (HHC) is a common autosomal recessive disorder of iron metabolism that results in progressive iron overload and can be fatal if untreated. The hemochromatosis gene (HFE) was identified by positional cloning in 1996. Two missense mutations have been described in HFE.
Cullen, L. M.   +4 more
openaire   +3 more sources

Diagnosis of Hemochromatosis

Annals of Internal Medicine, 1998
If untreated, hemochromatosis can cause serious illness and early death, but the disease is still substantially under-diagnosed. The cornerstone of screening and case detection is the measurement of serum transferrin saturation and the serum ferritin level.
D. K. George   +3 more
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Hereditary hemochromatosis--a new look at an old disease.

New England Journal of Medicine, 2004
For many years, hereditary hemochromatosis was regarded as a clinically and genetically unique entity marked by a classic presentation consisting of diabetes, bronze skin pigmentation, and cirrhosis. In 1996, identification of “the hemochromatosis gene,”
A. Pietrangelo
semanticscholar   +1 more source

Hemochromatosis

Current Treatment Options in Gastroenterology, 1999
The mainstay of treatment for hemochromatosis is therapeutic phlebotomy. The procedure is safe, effective, and relatively cheap. Deferoxamine (iron chelation) is necessary only in iron-loaded individuals who cannot undergo therapeutic phlebotomy. If therapy is initiated before complications develop, it is expected that no complications will ever ...
openaire   +2 more sources

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