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This is a recent, and very interesting article from "Molecular Medicine for Clinicians"
(05/23/01).


      Hemochromatosis:
      A"Simple" Genetic Trait

      RICHARD D. PRESS
      Oregon Health Sciences University

     
      With the discovery of the causative gene, the disorder stands revealed as America's single most common mendelian disease. Unlike other genetic diseases, it is already curable. Indeed, genetic screening makes it potentially preventable. Yet a finding of disease-related genotype can also lead to stigmatization. Hemochromatosis therefore presents the issues surrounding genetic testing in especially stark form. 

      HERE 


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From the American Medical Association
May 2001

"Highlights from SACGT Meeting, May 2-3)

CDC Data Collection Team
Muin Khoury and Tim Baker from the CDC provided an update of their efforts of coordination of data collection and dissemination on genetic testing. The ACCE Project (Analytic, Clinical validity, Clinical utility and ELSI issues) is designed to develop and test a model system to assess the availability and usefulness of existing data on DNA-based tests and testing algorithms. The disorders targeted for year one are CF, Iron Overload (HFE mutations and transferring saturation) and venous thromboembolism (factor V, prothrombin). The HuGE Net Activities (launched in 1998) were also discussed. HuGE Net (Human Genome Epidemiology Network) is a collaborative effort of individuals and organizations committed to the development and dissemination of population-based human genome epidemiology information.

HERE

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From JAMA August 8, 2001

Hemochromatosis Clue

Joan Stephenson, PhD

For individuals who have hereditary hemochromatosisincluding about 0.5% 
of the US white populationbuildup of iron in the body caused by aberrant 
iron metabolism can cause severe organ damage and other health problems. 
Scientists have identified hemochromatosis-related mutations in some of 
the genes involved in iron metabolism, but not all genes or mutations 
that underlie this condition are known.

Now, however, a team of researchers from the Netherlands has identified 
a new gene that, when mutated, can cause this relatively common 
disorder. The new findings were reported in the July issue of Nature 
Genetics.

In the study, which involved a large Dutch family in which 
hemochromatosis was prevalent, researchers led by Peter Heutink, PhD, of 
Erasmus University in Rotterdam, found that affected family members had 
a mutation in a gene called SLC11A3 (a gene that is similar to other 
genes known to play a role in iron metabolism).

An analysis of the mutated gene suggests that it would result in an 
abnormal protein with an altered ability to bind or transport iron. The 
new finding may point the way to new approaches to treating 
hemochromatosis and, possibly, anemia, the researchers noted.

HERE







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