Haemochromatosis or genetic haemochromatosis is a disease where the body absorbs too much iron from the diet. The iron which is used to manufacture the red cells in the blood needs to be sorted, so it is deposited in various organs, such as the liver, most commonly, but also the pancreas, joints and glands that produce hormones (endocrine glands, e.g. pituitary gland in the brain). If excessive quantities of iron are stored in these organs, tissue damage result with malfunction of that organ. If severe damage occurs, Hereditary Haemochromatosis may be life-threatening.
As iron deposits build up slowly over many years, symptoms do not usually develop until a person is in their 40s or 50s. Symptoms appear later in women, as blood loss during menstruation and pregnancy tends to protect them.
In the early stages of disease, the symptoms of Haemochromatosis are vague, and not specific to any one condition:
As the disease progresses, the symptoms and signs will relate to the various organs that are damaged.
Liver: Swelling of the liver, or cirrhosis (permanent scarring).
Pituitary Gland: Testicular atrophy, impotence in males and irregular menses, infertility and early menopause in females.
Heart: Palpitations, irregular heart beat and heart enlargement.
Brain: Depression, confusion and memory loss.
Joints: Swelling, especially of the first two finger joints.
The aim is to recognise and treat people at risk, before any symptoms develop. A simple screening test that we carry out at Irish Health Care is a measurement of the Serum Ferritin in the blood. Ferritin is an iron – storage protein, and a raised level of this protein may indicate iron overload. Ferritin may however also be elevated, due to other causes, such as infection or by malignancy. If the Serum Ferritin level exceeds 300, then further blood tests, such as the iron concentration and iron binding capacity, must be carried out along with a blood test for genetic screening to detect the presence of an abnormal gene in the blood - the hereditary cause of Haemochromatosis. Depending on these results, liver biopsy may be indicated.
When the disease is diagnosed in its early stages, simple treatment can result in a normal life-span, and prevent further damage, and improve life expectancy. Treatment involves the regular removal of blood (phlebotomy), once or twice weekly, depending on the severity of the iron overload. This initial treatment may need to be carried out over 12-24 months, with regular monthly blood testing.
Maintenance therapy is life-long and may necessitate further phlebotomy when blood tests indicate the iron is re-accumulating.
Diet also plays a part in maintenance treatment e.g.
This is an inherited disorder and will only develop in an individual whose mother and father both carry defective gene on their chromosomes. If only one parent is a “carrier”, their son or daughter will be perfectly well, with full life expectancy, but may also be a “carrier”.
In Ireland, approximately 20% of the population are carriers, whereas in North America, only about 10% are carriers. In people of Northern Exposure descent, the incidence of Haemochromatosis in 1 is 300 – 400.
Haemochromatosis is now recognised as being one of the most common genetic disorders.
Although Haemochromatosis was first described in the medical literature more than 100 years ago, the cause of the disease was not known, and only recognised in the late stages of the illness. It is within the last 15 years that studies have shown that people with early evidence of iron accumulation can be identified through blood testing.
As Haemochromatosis may be a fatal disease, if undiagnosed, and a fully treatable condition if detected early, a simple inexpensive blood test may be life-saving!