McCune, C.A.; Ravine, D.; Worwood, M.; Jackson, H.A.; Hutton, D.
April 2003
Gut;Apr2003 Supplement 1, Vol. 52, pA105
Academic Journal
Background and Aims: The clinical significance of HFE mutations in hereditary haemochromatosis (HH) remains uncertain. Long term follow up studies of homozygotes identified by genetic screening are not available and the natural history associated with this genotype remains only partially understood. The penetrance of the HFE (C282Y) mutation may be considerably lower than previously thought. For this reason population screening by genotyping is no longer advocated. Screening by phenotype (iron assays) may be feasible. Studies have shown that screening costs are substantially reduced if first degree relatives are identified, but none address the likely uptake of testing. This 4 year follow up study reports on the uptake of testing for HH in first degree relatives of index cases identified by screening 10 500 blood donors (all received verbal and written information offering family testing) and compares uptake after a further proactive approach. Methods: Consenting first degree relatives were interviewed (mainly at home) and counselled by a physician. Blood samples were obtained for transferrin saturation, serum ferritin and HFE genotyping. Results: 56 of 72 index C282Y homozygotes were available for further study. 164 (91%) of available relatives were interviewed. Only 25% had previously been tested for HH. After counselling, 99% elected to have testing. 23 C282Y +/+ were identified. 17 (74%) were previously unaware of the diagnosis. Conclusions: The uptake of testing for HH in these first degree relatives reveals a poor uptake among relatives of cases identified by population screening, which throws considerable doubt on the overall efficacy of population screening for HH, as currently advocated. By contrast, a focused proactive approach towards the families of index cases yields a greatly increased uptake of testing. Such rates are unlikely to be currently achievable in primary care. The use of centralised resources is recommended, but likely to be time...


Related Articles

  • Hereditary haemochromatosis: to screen or not. Haddow, James E.; Bradley, Linda A. // BMJ: British Medical Journal (International Edition);08/28/99, Vol. 319 Issue 7209, p531 

    Editorial. Discusses the interest of health community to hereditary hemochromatosis. Traditional view on hemochromatosis; Symptoms of the disease; Support for population screening; Factors to be considered before making a decision on screening.

  • Screening for Hemochromatosis: Phenotyping or Genotyping or Both? Tavill, Anthony S. // American Journal of Gastroenterology;Jun1999, Vol. 94 Issue 6, p1430 

    Compares phenotyping and genotyping screening for hemochromatosis. Factors considered in making recommendations for population screening for genetically determined human disorders; Significance of available data on the epidemiology and phenotypic expression of hemochromatosis to the development...

  • More Iron Overload Screening Recommended.  // Tufts University Health & Nutrition Letter;Jan2001, Vol. 18 Issue 11, p7 

    Focuses on the importance of medical screening for the diagnosis and treatment of a genetic disorder called iron overload or hemochromatosis. Details on the storage of iron in the body; Complications caused by iron overload; Failure of Caucasians to undergo medical screening.

  • Hereditary haemochromatosis mutation frequencies in the general population. Bradley, Linda A.; Johnson, Dorene D.; Palomaki, Glenn E.; Haddow, James E.; Robertson, Nancy H.; Ferrie, Richard M. // Journal of Medical Screening;Mar1998, Vol. 5 Issue 1, p34 

    Objectives This study aims to expand our knowledge of the general population frequency of two mutations, C282Y and H63D, identified in the candidate gene for hereditary haemochromatosis, and to determine whether the testing can be performed using routinely obtained cheek-brush (buccal) samples....

  • Research brief: Patients accept haemochromatosis screening.  // GP: General Practitioner;8/5/2005, p5 

    The article focuses on an Australian study which finds that screening for hemochromatosis is feasible and acceptable to patients. The researchers used cheek swabs to screen 11,307 people in a workplace for a genetic mutation that would put them at risk of iron overload. They identified 47 people...

  • Hereditary hemochromatosis. Burke, Wylie; Thomson, Elizabeth; Khoury, Muin J.; McDonnell, Sharon M.; Press, Nancy; Adams, Paul C.; Barton, James C.; Beutler, Ernest; Brittenham, Gary; Buchanan, Allen; Wright Clayton, Ellen; Cogswell, Mary E.; Meslin, Eric M.; Motulsky, Arno G.; Sigal, Elliott; Wilfond, Benjamin S.; Collins, Francis S. // JAMA: Journal of the American Medical Association;7/8/98, Vol. 280 Issue 2, p172 

    Evaluates the role of genetic testing in screening for hereditary hemochromatosis to help guide clinicians, policymakers, and researchers. Objective; Participants; Evidence; Consensus process; Conclusions.

  • The debate over screening for hemochromatosis.  // Patient Care for the Nurse Practitioner;Aug2003, Vol. 6 Issue 8, p8 

    The article talks about screening for hemochromatosis. A consensus statement prepared by an expert panel convened by the CDC and the National Human Genome Research Institute in 1998 concluded that genetic testing is not recommended at this time in population-based screening for hereditary...

  • Answering your questions. Baer, Daniel M. // MLO: Medical Laboratory Observer;Jan2005, Vol. 37 Issue 1, p44 

    Presents question and answer advisory on health-related issue. Screening tests for hemochromatosis; Increase in transferrin saturation by iron-fortified vitamins; Major variables that would affect the activation of antibiotics; Accuracy of checking for platelet-poor plasma.

  • Screening for Hereditary Hemochromatosis: Recommendations from the American College of Physicians. Qaseem, A.; Aronson, M.; Fitterman, N.; Snow, V.; Weiss, K. B.; Owens, D.; Schmitt, B.; Golub, R. M.; Green, R. // Annals of Internal Medicine;10/4/2005, Vol. 143 Issue 7, pI46 

    The article presents information about recommendations from the American College of Physicians for screening of hereditary hemochromatosis. Hereditary hemochromatosis is a disease in which an abnormal gene causes the body to absorb too much iron from food. Iron builds up in body organs, which...


Read the Article


Sign out of this library

Other Topics