Re: Hemochromatosis

Posted By HFHSM.D.-ym on August 09, 1998 at 21:49:39:

In Reply to: Hemochromatosis posted by Mary Beth on August 06, 1998 at 23:59:03:






My dear friend has a son that has been diagnosed with hemochromatosis.  Very little information is available on the condition.  I need some reading material and/or resource guides to direct her way.  Is the condition terminal and what is the usual treatment plan.  I would appreciate any or all information.
Dear Mary Beth,
Hereditary hemochromatosis is a genetic disorder of iron overload. It is inherited as an autosomal recessive trait. Excess iron is absorbed by the intestine leading to increased iron being deposited into the liver and other tissues. The gene is located on chromosome 6. Genetic testing is available to diagnose this disorder in relatives of an index case. Nevertheless, in most cases a liver biopsy (tissue sample) is analyzed for increased iron deposition to make the diagnosis. Hemochromatosis is more common than previously thought and occurs in whites of Northern European descent in a frequency of 1in 250-400 individuals. Since it is currently recognized that the disease is rather common, more physicians are testing the general population to rule out this disorder. An elevated iron or transferrin saturation is a clue to proceed with further testing to make the diagnosis.
The good news is that it has been determined that if one initiates treatment (with phlebotomy) for hemochromatosis prior to the development of cirrhosis (scarring of the liver) one can prevent the development of complications such as liver cancer. It has also been reported that patients who undergo phlebotomy to remove excess iron can expect to live a normal life span. Further information on this disorder can be obtained by searching the archives and by contacting the American Liver Foundation  1425 Pompton Avenue, Cedar Grove, N.J. 07009; 1-800-223-0179; email: http://www.liverfoundation.org
This response is being provided for general informational purposes only and should not be considered medical advice or consultation. Always check with your personal physician when you have a question pertaining to your health.
If you would like to be seen at our institution please call 1-800-653-6568, our Referring Physicians' Office and make an appointment to see Dr. Muszkat, one of our experts in Gastroenterology.
HFHSM.D.-ym
*Keywords: hemochromatosis, diagnosis, treatment