Heamachromatosis - the downside of being Ironman

Tweet

It's funny how you remember a face!

I vividly remember one that I only saw once decades ago on the wards of my Alma Mater in London. It was, and I kid you not, a bronze face on a walking, talking human being. I mention this because today's blog is on Haemachromatosis, a genetic disorder causing iron overload which, if not managed properly, can lead to Iron toxicity and permanent damage to various organs - and one of those is the pancreas: damage your pancreas and you get Diabetes. Diabetes caused in this way is often known as "Bronze Diabetes" and the man whom I saw all those years ago was suffering from that very same condition.

Haemachromatosis is one of the most common genetic disorders in Australia, affecting up to 1 in 8 persons of Northern European descent. It occurs when both parent carry a copy of a defective gene - called the HFE gene - and pass it on to their offspring who will then have a 1 in 4 chance of having problems associated with a protein responsible for absorbing Iron into the body. This faulty protein allows too much Iron to be absorbed and if undiagnosed can lead to serious organ damage.

The good news is that if someone in your family is known to have Haemachromatosis, then screening can happen at an early age and the necessary precautions to be taken, so that the toxic effects of Iron overload are managed properly.

Because the iron levels are slow to build up, Haemachromatosis is diagnosed in later life - usually in males in their 50's and 60's, and mainly a decade later in women who up to the menopause are "iron shedders" with monthly menstruation. It is rare that it presents early in life, although this can happen. The diagnosis is suspected when patients are found to have raised iron stores within the body - a test that looks for the saturation level of certain protein responsible for carrying iron around the body. If these levels are high then genetic testing is warranted.

The condition is relatively "easily" managed by frequent blood letting to drain the body of excess iron, and once this is down to acceptable levels then blood letting is usually performed every 3 to 4 months. The good news is that this blood is generally safe for transfusion uses unless there are other associated health concerns.

If left untreated then the iron can build up in critical organs

• The heart - where is can lead to heart failure or irregular heart beats.
• The pancreas - where it can lead to Diabetes
• The liver - where it can lead to cirrhosis
• Joints - leading to arthritis.
• General fatigue

Haemachromatosis is common, it is often asymptomatic until our later years and yet is eminently manageable with early intervention. Don't be cast in bronze whilst you're still alive: leave that to our Hollywood action men and women!
Image