Healthy people usually absorb about 10% of the iron contained in the food they eat. People with hemochromatosis absorb up to 30% of iron. Over time, they absorb and retain between 5 to 20 times more iron than the body needs.
The association between hemochromatosis and diabetes was first recognized in the late 1800’s.. The damage to the pancreas from excessive iron deposits can cause diabetes, experts say. Even though people have defective hemochromatosis genes from birth, the symptoms usually don’t occur until adulthood. The symptoms associated with hemochromatosis are diverse; however, it sometimes causes no symptoms.
To rid the body of excess iron, people with hemochromatosis are given regular treatments of phlebotomy ( blood removal). The normal iron content of the body is 3 to 4 grams. Hemochromatosis can be diagnosed based on special blood tests. It is best to catch hemochromatosis early. Patients with hemochromatosis may be asymptomatic or may present with general and organ-related signs and symptoms. Excess iron is stored (asymptomatically) in body tissues and patients can get type 2 diabetes, type 1 diabetes or cancer. Primary tumors often develop at body sites of excessive iron deposits.
There are several known mutations in the HFE gene, but presently testing for only three is available: C282Y, H63D, and S65C. When a person has one mutated copy, he or she is called a carrier or heterozygote. When a person has two of the same mutated copies, he or she is called a homozygote. When a person has two different but mutated copies, he or she is called a compound heterozygote.
Most at Risk - C282Y homozygote and the C282Y/H63D compound heterozygote
Moderate Risk- H63D homozygote or other compound heterozygote combinations
Low Risk- C282Y heterozygote (carrier); H63D heterozygote (carrier) or S65C heterozygote (carrier)
The doctors on the Board of Directors of The American Hemochromatosis Society state that transferrin saturation percentage greater than 40% and serum ferritin greater than 150ng/mL could indicate clinical iron overload/iron storage in the body and treatment with phlebotomy (bloodletting) should be considered regardless of DNA test results.
This means that patients' treatment should not be based on genetic test results alone whether positive or negative. The DNA test is a powerful tool to help us find people at risk; 85-98% of patients with clinical iron overload have the hemochromatosis mutations, however, the most important point to remember is that excess iron needs to be evaluated and treated.Dr.William Crosby, the late well known hemochromatosis physician and researcher, declared that if a patient has demonstrated excess iron then they are in danger of organ damage and premature death.
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