New research has revealed that hemochromatosis — a genetic condition that causes more than a million Americans to absorb too much iron from their diets — is a much more serious cause of disease and disability than previously thought.

Hemochromatosis is an iron-storage disorder that can cause the body to absorb too much iron from foods and other sources, such as multivitamin supplements with iron.

This extra iron can gradually build up in the body’s tissues and organs, particularly in the liver cells, heart, pancreas, joints, and pituitary gland. If left untreated, this iron buildup may lead to tissue and organ damage over time.

Hemochromatosis is easy to detect through blood tests and is treated by blood withdrawals, but carriers suffer from a lack of nationwide awareness of the condition.

Two new studies, published in The BMJ and The Journals of Gerontology: Medical Sciences, showed that hemochromatosis, previously thought to be a low-level health risk, actually quadruples risk of liver disease and doubles the risk of arthritis and frailty in older people.

It also causes higher risk of diabetes and chronic pain, and a small number of patients develop liver cancer.

The research was led by a team from the University of Exeter in the United Kingdom, the University of Connecticut, and the NIA Intramural Research Program.

Hereditary hemochromatosis is caused mainly by specific inherited alterations (mutations) in the HFE gene. When an individual inherits two altered copies of the gene — one from each parent — they are at risk of developing high iron levels, which may lead to illness or organ damage over time.

However, most people born with two altered copies of the HFE gene will not develop serious complications. People who inherit an altered gene from only one parent are carriers for the disorder, but are not typically affected themselves.

In a study about 10 times larger than any previous look at hemochromatosis rates, the team reviewed data on 2,890 British people who carried the two mutations. They found that 1 in 5 men and 1 in 10 women with these mutations developed additional diseases as they got older, compared to those without the genes.

Hemochromatosis sufferers were also more likely to have chronic pain, decreased muscle strength, and to be frail as they aged.

Hemochromatosis symptoms, such as fatigue and muscle and joint pains, are easily confused as part of typical aging, and the disease often goes undetected until damage is done.

Men and women have the same chance of inheriting two copies of the altered HFE gene. However, men are more likely than women to develop complications and at an earlier age because women lose excess iron in the blood naturally during menstruation and pregnancy.

Men usually begin displaying symptoms between ages 40 and 60, whereas women typically present symptoms after menopause.

Hereditary hemochromatosis is one of the most common genetic disorders in the United States. Known in Ireland as “the Celtic Curse,” people of Northern European descent have a higher chance of having an altered HFE gene.

Hereditary hemochromatosis is more common among U.S. non-Hispanic whites and is less common among African Americans, Asian Americans, Hispanics/Latinos, and American Indians.

Researchers hope that this increased awareness of the scope of the problem can help lead to increased testing and treatment, which should improve quality of life and reduce frailty and disability rates for those with genetic risk for hemochromatosis.

Anyone with a family history of the condition should talk to their doctor and consider being tested for hereditary hemochromatosis if they are experiencing severe fatigue, unexplained cirrhosis, joint pain, arthritis, diabetes, heart problems, or erectile dysfunction.

For more information, visit Hemochromatosis.org.

 


 

Symptoms of Hemochromatosis

 

• Lack of energy

• Abdominal pain

• Memory fog

• Loss of sex drive

• Heart flutters

• Irregular heartbeat

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