Diagnosis of Hemochromatosis

Powell, Lawrie W.; George, D. K.; McDonnell, Sharon M.

doi:10.7326/0003-4819-131-4-199908170-00019

Cited by 54 publications

(48 citation statements)

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“…The prevalence of the HBsAg carrier ranges from 0.1% to 2% in the western world, but probably averages 0.3% to 0.4% in the Unites States (2). Finally, HFElinked hereditary hemochromatosis, the most common genetic disease among individuals of northern European descent, has a homozygote frequency of 1:200 to 1:400, although clinical expression may be considerably lower (6).…”

Section: Elevated Ast or Alt To Nonalcoholic Fatty Liver Disease: Accmentioning

confidence: 99%

Elevated AST or ALT to nonalcoholic fatty liver disease: accurate predictor of disease prevalence?

2003

The American Journal of Gastroenterology

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Section: Elevated Ast or Alt To Nonalcoholic Fatty Liver Disease: Accmentioning

confidence: 99%

Elevated AST or ALT to nonalcoholic fatty liver disease: accurate predictor of disease prevalence?

2003

The American Journal of Gastroenterology

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“…As iron overload increases, symptoms may become more severe and in later life it may lead to severe disease that includes liver cirrhosis, cardiomyopathy and diabetes. 1 The classic picture of HH, known as 'bronzed diabetes' is a rare condition that results from severe or gan damage due to iron deposition.…”

Section: H Ereditary Haemochromatosis (Hh)mentioning

confidence: 99%

Public health aspects of genetic screening for hereditary haemochromatosis in Australia

Gertig

Fletcher

Hopper

2002

Australian and New Zealand Journal of Public Health

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Hereditary haemochromatosis (HH) is an inherited disorder of iron absorption. It meets several of the key public health principles for population‐based screening and is considered to be a test‐case for public health genetics However, there has been relatively little debate in the public health or wider community regarding the merits of population‐based genetic screening for HH. Genetic susceptibility to HH occurs in about 1:200 people and although mortality is low (age‐standardised rate 2.75/million), there are potentially serious clinical manifestations of iron overload. Regular venesection is a simple and effective treatment for early stage iron overload. DNA‐based testing is available and iron overload may be identified using serum transferrin saturation and ferritin tests. However, there are important gaps in knowledge relevant to screening for HH. The limited data on penetrance of HFE genotypes, and thus the uncertain probability that genetically susceptible individuals will develop clinically significant disease, is a major impediment to population‐based genetic screening. Clinical evidence supports treating early‐stage disease but no randomised controlled trials of the effectiveness of screening in reducing the burden of disease have been conducted. In addition, the natural history of early stages of HH and factors that may modify progression are unclear. Two international consensus panels on HH concluded that there is insufficient evidence for population‐based screening at present. We present recommendations to advance the debate on screening for HH in Australia.

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“…17,19 Hemosiderosis is characterized by storage of increased amounts of iron in Kupffer cells of the liver with no apparent hepatocellular damage. It can be caused by high concentrations of iron in the diet, transfusions, or thalassemias, which are diseases with defective hemoglobin metabolism.…”

mentioning

confidence: 99%

Canine Liver Iron, Copper, and Zinc Concentrations and Association with Histologic Lesions

et al. 2002

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Abstract. Concentrations of iron, copper, and zinc were measured in livers of 95 dogs that were suspected of having liver disease. Iron concentrations ranged from 177 to 7,680 ppm (dry weight basis); 54 dogs had iron concentrations greater than the normal concentration of 1,200 ppm. Iron stores were present in Kupffer cells and macrophages but not hepatocytes. The dogs did not have lesions of hemochromatosis. Dogs with high liver iron tended to have high liver copper and inflammatory lesions. High liver copper concentrations usually were associated with hepatocellular necrosis and fibrosis. High liver zinc was found in only 5 animals and was accompanied by histologic inflammatory lesions in one. In humans, increased iron concentration in the liver exacerbates liver damage caused by a variety of insults, and the same may be true for dogs.

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Diagnosis of Hemochromatosis

Cited by 54 publications

References 0 publications

Elevated AST or ALT to nonalcoholic fatty liver disease: accurate predictor of disease prevalence?

Elevated AST or ALT to nonalcoholic fatty liver disease: accurate predictor of disease prevalence?

Public health aspects of genetic screening for hereditary haemochromatosis in Australia

Canine Liver Iron, Copper, and Zinc Concentrations and Association with Histologic Lesions

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