Due to our heritage, one in every six South Africans is a carrier of the genetic defect haemochromatosis, and one in 100 is at risk of loading iron. Yet it's constantly misdiagnosed and missed by doctors.

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Most of us worry about becoming anaemic when we feel tired, but a common genetic disorder called haemochromotosis can be responsible for chronic fatigue when the problem is too much iron in the body.

Hereditary haemochromatosis (HH) is a tricky disease to pin down because of the wide range of medical conditions and the non-specific symptoms associated with it that can make the diagnosis complicated. Early features of iron overload such as fatigue, joint pain, abdominal pain and loss of libido could be the result of any number of illnesses and are often not recognised as symptoms of the disease.

Even more problematic is that patients in the early stages of iron overload have normal liver function tests which makes it hard to determine where the problem is, while mildly abnormal liver function tests are commonly ascribed to excessive alcohol use.

Until recently, one gene called HFE was considered the only major cause of inherited iron overload that can easily be treated with phlebotomy. Today, thanks to major advances in genetic research, it is clear that haemochromatosis has many causes and that other clinical conditions could effect the disease process. When patients have high ferritin levels in the presence of low or normal transferrin saturation other genetic causes and treatment options must be considered.

Awareness is everything
According to the Hereditary Haemochromatosis Society "awareness of haemochromatosis is everything: detect it early and you live a normal lifespan; detect it too late and it can be fatal".

"My brother, Paul, died when he was just 25 years old," recalls Kirsten Alberts who heads up the South African branch of the society. "He complained of a sensitive stomach and became very aware of what he ate, because he suffered from unexplained diarrhoea. He even thought that he had irritable bowel syndrome or an ulcer and went for a gastroscopy, but further tests showed nothing.

"His complexion became darker and he became even thinner. After his death, a friend mentioned that he had had severe joint pains. Twice Paul went to urologists because he experienced impotence problems and twice he was given a clear bill of health.

"Then, on a Friday afternoon in February 2000, he felt so ill that he could not work. He lay down on the floor in his office, desperately trying to breathe. A doctor referred him for an emergency appendectomy, due to his severe abdominal pains and high blood pressure. In theatre, before the doctors could remove his appendix, they noticed severe organ damage and he was placed in intensive care. His heart and liver were enlarged. There was damage to his pancreas, water in his lungs and most of his glands were swollen. They told us it could be TB, cancer or Aids. Tests were done and on the Monday we heard that it was an iron overload. In the meantime his lungs had collapsed and by the next day Paul was dead."

Often diagnosed too late
Haemochromatosis is frequently diagnosed when it is too late to prevent organ damage because early features of iron overload are commonly not recognised to be associated with a genetic disease by primary care physicians.

Clinicians have however very rapidly benefited from molecular genetic research on haemochromatosis. A comprehensive genetic test have been developed that takes genetic and environmental factors into consideration to make a diagnosis and invasive liver biopsy is no longer the only means of establishing if you have hereditary haemochromotosis.

All it takes is a quick blood sample, which gets sent to the laboratory for testing. You should have your results back within a matter of days and if your iron levels are raised, then treatment can begin immediately. And, in a case of prevention really is better than cure: when a DNA test identifies a genetic predisposition in healthy family members of someone with haemochromatosis, regular blood donation can prevent the development of the same condition and the person will not be burdened with a genetic disease. Know your genes and save your life. - (Dr Maritha Kotze/Kirsten Alberts)

A new pathology supported genetic testing approach will be discussed at a full-day workshop on the 27th of May 2009, at the Medical School of the Universtiy of Stellenbosch. Click here for more information on the workshop or visit Haemochromatosis South SA.

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