Screening for hemochromatosis

Crawford, Darrell H. G.; Hickman, Peter E.

doi:10.1053/he.2000.7354

Cited by 6 publications

(4 citation statements)

References 19 publications

(21 reference statements)

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“…Morbidity and mortality in HH are related to the presence of iron overload in the blood, tissue, and organ systems, not the HFE mutation, per se 32. End organ damage is related to the severity of iron overload and reduces life expectancy 4. One study suggests that HFE screening is cost effective if the proportion of C282Y homozygotes that develop end organ damage when left untreated is over twenty percent 4.…”

Section: Cost Effectiveness Of Screening For Hfe Mutationsmentioning

confidence: 99%

“…End organ damage is related to the severity of iron overload and reduces life expectancy 4. One study suggests that HFE screening is cost effective if the proportion of C282Y homozygotes that develop end organ damage when left untreated is over twenty percent 4. Allen et al recently reported that nearly 28 % of men and 1 % of women with C282Y homozygosity will develop iron overload disease 33…”

Section: Cost Effectiveness Of Screening For Hfe Mutationsmentioning

confidence: 99%

“…Early detection of the disorder, and thus earlier treatment by phlebotomy (repeated blood draws), can greatly mitigate its effects and allow HH patients to live normal, healthy lives 4 . HFE testing in combination with a patient's family history and physical health record can provide guidance for clinical interventions or lifestyle changes that a patient would not have without genetic testing.…”

Section: Introductionmentioning

confidence: 99%

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Impact of gene patents and licensing practices on access to genetic testing for hereditary hemochromatosis

Chandrasekharan¹,

Pitlick

Heaney³

et al. 2010

Genetics in Medicine

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Hereditary hemochromatosis (HH) is an iron metabolism disorder that leads to excess iron buildup, especially in the heart, liver, and pancreas. Mutations in the HFE gene are the single most common cause of HH, which can be treated effectively if diagnosed early. Patents cover the HFE gene, related proteins, screening methods, and testing kits. Most initial testing for HH is biochemical, but HFE DNA testing or genotyping is used to confirm a diagnosis of inherited hemochromatosis. Concerns over patents covering HFE testing emerged in 2002, when scholars argued that exclusive licensing and the patent-enabled sole provider model then in place led to high prices and limited access. Critics of the sole provider model noted that the test was available at multiple laboratories prior to the enforcement of patents. By 2007, however, Bio-Rad, Limited, acquired the key intellectual property and sub-licensed it widely. In part because of broad, nonexclusive licensing, there are now multiple providers and testing technologies, and research continues. This case study illustrates how both changes in intellectual property ownership and evolving clinical utility of HFE genetic testing in the last decade have effected the licensing of patents and availability of genetic testing.

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Section: Cost Effectiveness Of Screening For Hfe Mutationsmentioning

confidence: 99%

Section: Cost Effectiveness Of Screening For Hfe Mutationsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Impact of gene patents and licensing practices on access to genetic testing for hereditary hemochromatosis

Chandrasekharan¹,

Pitlick

Heaney³

et al. 2010

Genetics in Medicine

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“…Measurements of transferrin‐iron saturation may vary greatly if performed using different techniques or equipment. The gold standard for the measurement of transferrin‐iron saturation requires colorimetric measurement of iron and immunological measurement of transferrin 57 ,. 58 Transferrin‐iron saturation may then be calculated using the molecular weight of transferrin.…”

Section: Phenotypic Evaluationmentioning

confidence: 99%

Haemochromatosis

Whittington

Kowdley

2002

Aliment Pharmacol Ther

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Summary Hereditary haemochromatosis is the prototype disease for primary iron overload. The disorder is very common, especially amongst subjects of Northern European extraction. It is characterized by an autosomal recessive mode of inheritance, and most cases are homozygous for the C282Y mutation in the HFE gene. Haemochromatosis is now recognized to be a complex genetic disease with probable significant environmental and genetic modifying factors. The early diagnosis of individuals at risk for the development of haemochromatosis is important, because survival and morbidity are improved if phlebotomy therapy is instituted before the development of cirrhosis. The cost‐effectiveness and utility of large‐scale screening for haemochromatosis have been questioned given that many individuals with the homozygous C282Y mutation do not have iron overload or end‐organ damage. However, the use of phenotypic tests, such as serum transferrin‐iron saturation, for initial screening avoids the problem of the identification of non‐expressing homozygotes. Liver biopsy remains important in management to determine the presence or absence of cirrhosis, particularly amongst patients with serum ferritin levels greater than 1000 ng/mL or elevated liver enzymes. Those with non‐HFE haemochromatosis who cannot be identified on genotypic testing should have a liver biopsy to establish diagnosis. Patients with end‐stage liver disease may develop liver failure or primary liver cancer, and liver transplantation may be required. Liver transplantation for haemochromatosis is associated with a poorer outcome compared with other indications because of infections and cardiac complications.

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