DOCTOR'S VIEW ARCHIVE
Iron Overload (Hemochromatosis) ... To Screen or Not to Screen?
July has been designated Hemochromatosis Screening Awareness Month in the United States but the question all year long everywhere in the world is: Whether to screen or not to screen? That is the question that divides the health care professionals who care for people with hemochromatosis, a disorder commonly called iron overload.
If not recognized and treated, iron overload can have dire consequences such as scarring of the liver (cirrhosis), diabetes, and heart failure.
The means to screen for iron overload are available. But they are not being used. Why? Because there is disagreement about whether screening should be done.
Some Areas of Agreement
There is also no disagreement about the genetic basis of hemachromatosis. About 1 in 9 people carries a gene for hemochromatosis but never develops the disease (although they can pass the gene along to their children) each child of a carrier runs a 25% risk of inheriting both of their hemochromatosis genes and joining the 1 in 300 Americans estimated to have the disease.
Gene Raises Screening Questions
What started the controversy brewing over screening was the identification of the gene responsible for most cases of iron overload. The key research had begun in 1976 when it was recognized that there might possibly be an association between the hemochromatosis gene and the major transplantation genes (called HLA). The hemochromatosis gene was finally found in 1996. The symbol for the gene is HLA-H (HLAE) or, now preferably, HFE.
Once the HFE gene was identified, a test for it was devised and questions arose in earnest about the prospect of massive public health screenings for hemochromatosis.
Patients with the disease see an average of three doctors before being correctly diagnosed, according to the Centers for Disease Control (CDC). Advocates say screening could be a useful tool for identifying and treating the disease early.
What the Expert Panel Said
The expert panel recommended against screening large populations for the disorder. Their recommendation was based on lack of information about how the gene is distributed within populations, how it affects different people, how the disease progresses, and how to care for people who have mutations of the gene but have no signs or symptoms of the disease. The panel also raised the issues of discrimination and stigmatization of people with the gene. They concluded that population-based research needs to be conducted to learn more about the disorder and how genes (and the environment) interact to cause the disorder to progress differently or not at all in some people.
A Panel Member Speaks