Hereditary hemochromatosis (HH) is the most common form of hemochromatosis. It is predominately a disorder of persons of northern European extraction. In this form of hemochromatosis patients are most commonly homozygous for (carry two copies of) the C282Y mutation of the HFE gene. Sometimes patients may carry one copy of the C282Y mutation and one copy of the H63D mutation. There are other forms of hemochromatosis and iron overload which will be discussed later.

Hereditary hemochromatosis takes many years to display its true nature. This is because it takes time to load iron in the body. Men usually load more quickly than women. This is because women have monthly menstrual cycles and have children. Each pregnancy is equivalent to the loss of 1 gram of iron. So the bar is “set lower” to confirm the diagnosis of HH in women. Before the true genetic nature of the disorder was recognized the diagnosis was made if the patient could be venesected or deironed of 5 grams of blood (if male) without causing significant anemia. If the patient was a woman only 3 grams of iron had to be removed by venesection without causing significant anemia to make the diagnosis. Liver biopsy was not infrequently employed to confirm the diagnosis.

Now with the ready availability of genetic testing the criteria are different. Often the diagnosis can be made using genetic testing and iron studies. Liver biopsy is often now not necessary.

What Happens When A Patient Presents?

Let us assume that a patient has presented with fatigue and arthralgia (aching joints) to a doctor. Now many things can give such a presentation. Paradoxically one of them is anemia or iron deficiency. Anyhow let us assume that the patient is suspected of having hemochromatosis. The patient is a lady of some 65 years of age. She had five children and menopause at age 45 years. She is of Irish/Scottish extraction and her mother died of liver problems – yet her mother never drank a drop of alcohol in her life. The patient is quite fair skinned. However this may be a red herring as not all patients with hemochromatosis go a bronzed or grayish color. When the patient is examined by the doctor she is noted to have enlarged and painful second and third knuckles and pain at the base of her thumbs. This is known as “iron fist” and is a clue to hemochromatosis. Examination of the patient’s abdomen reveals an enlarged liver. So preliminary testing is done. This patient is found to have an enlarged liver on ultrasound – but no cirrhosis. Her ferritin level is 650 ug/L and she has a transferrin saturation of 96%. In itself these are big clues – this patient probably has HH. Genetic testing reveals the patient to be a carrier of two copies of C282Y. Liver function tests are slightly abnormal. Now this patient has HH. A liver biopsy is probably not necessary as the ferritin level is not markedly elevated. Interestingly this patient almost certainly has fibrosis of the liver which may well be reversed if the patient is properly deironed.

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