Haemochromatosis

Hemochromatosis (he-moe-kroe-muh-TOE-sis) is described by the Mayo Clinic as: "a condition that causes the body to absorb too much iron from food." This excess iron is stored in the organs, especially the liver, heart, pancreas, and joints. Too much iron can lead to life-threatening conditions, such as liver disease, heart problems, and diabetes.

Untreated hemochromatosis can lead to death. Even when treated, hemochromatosis can cause debilitating conditions like chronic fatigue, and researchers have found a high prevalence of fibromyalgia (43%) among people who have hemochromatosis (Mohammad et al.). 

In the UK, Australia, Ireland, and some other countries, hemochromatosis is spelled haemochromatosis. 

Hemochromatosis affects men and women, although younger women have a natural defence against its effects in the form of menstruation since that removes iron from the body. Older women lose that defence, a fact that many doctors overlook, leading to a syndrome called hemopause.

As the Mayo notes, there are several types of hemochromatosis, but by far the most common is hereditary hemochromatosis (HH), which is "caused by a gene change passed down through families." In the UK this is referred to as genetic haemochromatosis. 

Most people who have the mutated HFE gene that causes hemochromatosis are of white northern European background. The condition is particularly common in countries where lots of folk have a Celtic background, such as Ireland, Scotland and Wales. Roughly one in five Irish people are carriers of HFE and about one in 83 having two copies of the gene, putting them at risk of iron overload. This led to the condition being dubbed Celtic Curse.

The Iron Disorders Institute says hemochromatosis affects over one million Americans and over 10 million have the gene that can cause iron overload. It is definitely not as rare as many doctors say. At a conference on rare diseases in 2019, I spoke with an expert in rare diseases who was firmly of the belief that hemochromatosis is not rare. What is rare is knowledge of the condition in the wider medical community. 

Also rare: prompt diagnosis of patients that have hemochromatosis. This is disappointing, particularly because humans have known about haemochromatosis for a long time, long before the science of genetics was a thing. In the old days, haemochromatosis was referred to as "bronze diabetes" owing to its tendency to cause diabetes and also discolouration of the skin, sometimes with a bronze or orange tint.

The harmful effects of iron overload can be reduced by bleeding, also known as phlebotomy and vivisection. Because this is relatively cheap and effective, it was long thought haemochromatosis would not support profitable pharmaceutical products. However, more recent research suggests that some people with haemochromatosis suffer its symptoms even when the level of iron in their blood is under control. Ironically, pun intended, this could lead to pharmaceutical treatments which would in turn lead to major haemochromatosis awareness campaigns financed by pharmaceutical companies to build the market for such treatments.