In his mid-forties, Bill was a successful businessman and happy with his family life. But then he began to feel tired and depressed. He had pain in his joints and belly, and his skin took on a yellowish tinge. After several years of medical visits and various diagnoses of depression, mid-life crisis, arthritis, and a stress-induced digestive disorder, a few simple blood tests finally revealed that he had hemochromatosis. Bill's story is not unique. Many Americans have this genetic disorder, and many do not know it.
What Is Hemochromatosis?
Hemochromatosis (HH) is a condition that causes the body to absorb and store too much iron. Some iron is essential for carrying oxygen in the blood to organs and tissues, but too much is toxic. HH is a common cause of iron overload. Excess iron accumulates in organs such as the heart, liver, joints, pancreas, and pituitary gland. If untreated, this accumulation can cause organ damage, and lead to heart attack, diabetes, cirrhosis of the liver, arthritis, depression, and premature death. The gene for hemochromatosis was isolated in 1996. The mutation can be passed on to offspring.
Why Is This Disorder Often Undiagnosed or Misdiagnosed?
Sometimes people with HH are misdiagnosed as having other disorders, including arthritis, diabetes, heart problems, liver/gallbladder disease, or various stomach disorders. Many people with HH do not know they have it. Symptoms do not usually occur in the early stages and may not even occur in advanced cases. And diagnosis is further complicated by the fact that routine blood tests do not reveal HH; specific blood tests are needed. What is most important is that with early diagnosis and treatment people with HH can lead normal, active lives and prevent serious organ damage. If the disorder is already severe, treatment can alleviate some symptoms, help prevent further complications, and reduce the chances of premature death.