Untreated blood disorder leads to liver cancer and arthritis

Jan 20 2008

Australian researchers have discovered that more than one quarter of men with hemochromatosis develop liver cancer, arthritis and other complications.

Hemochromatosis is the most common inherited blood disorder and causes the body to absorb up to three times the normal amount of iron in the blood.

According to the researchers if the condition is untreated, 28.4 percent of men will develop disorders caused by the iron overload.

The disease can be difficult to diagnose because its early symptoms can often be attributed to other causes and the most common treatment is to remove blood.

One in every 300-400 people is affected by the disease, and it is most common in Northern European communities, especially people of Irish, Scottish, Welsh and English descent and it affects 1 in every 200 Australians.

The scientists at Melbourne's Murdoch Children's Research Institute say their finding suggests hemochromatosis leads to more disease than previous studies have shown.

Dr. Katie Allen, who led the study says people who know their genetic status are at lower risk of disease than those who have not had screening.

The genetic marker for hemochromatosis is a mutation called C282Y and a person needs to inherit two copies of this defective gene, one from each parent, in order to be susceptible to the disease; when they do, they’re called "C282Y homozygotes."

Dr. Allen says therapy started early can prevent the harmful iron accumulation that usually appears in midlife.

In a study 1,438 randomly selected, healthy adults were followed for an average of 12 years; of those, 108 women and 95 men inherited a defective gene known as HFE from both parents, making them susceptible to absorbing too much iron from food, potentially leading to iron overload.

The research team found that of the men with an inherited predisposition for hemochromatosis, almost three in 10 had excessive iron in their tissues and organs, which led to diseases including liver cancer and arthritis.

Of women with the disorder, 1.2 percent had documented iron overload and associated ailments, say the researchers.

The researchers suggest that women may have fewer complications than men because of the blood and iron lost during menstruation and pregnancy and their slower rate of iron accumulation.

Early symptoms of the disease include fatigue, weakness, weight loss, abdominal pain and joint pain.

According to the U.S. Centers for Disease Control and Prevention (CDC) the early symptoms of the disease include fatigue, weakness, weight loss, abdominal pain and joint pain.

The CDC says sufferers can expect a normal life span if they start treatment before organ damage has begun.

Dr. Allen is a pediatric gastroenterologist and an associate professor of medicine at the institute and her research is published in the current issue of the New England Journal of Medicine.