Genetic Killer - Hemochromatosis

 Genetic Killer Plaguing Celtic People

 This article appeared in “The National Hibernian Digest”, November-December 2000

A recent article in the “San Francisco Gael” verified the truth about a little known disease-affecting people of Celtic descent. They wrote that it was a surprise to Jim McGinty that he had a life threatening blood condition that had gone unrecognized despite annual blood tests. It also came as a surprise to his doctors, who were not trained to recognize it. However, it came as a relief to discover that it is easily managed.

The condition is called Hemochromatosis - an excess of iron in the blood that eventually builds up in the body’s organs, especially the liver, causing them to fail. While this little known genetic defect can occur in any Caucasian, it has a dramatically higher occurrence in people of Celtic heritage, especially males. It has been called the Irish Sickle Cell Anemia, and is the most common genetic defect in the country. Surprisingly, it is almost unknown in the community it affects. Irish people are twice as likely to be carriers of the gene that causes Hemochromatosis, and more than three times as likely to suffer from the condition. This means that there are an estimated 5.6 million carriers out of the 45 million people of Irish descent in America, and ¼ million who suffer from the condition.

The build up of iron in the organs can cause chronic fatigue, pain in the joints, diabetes, heart disease and other conditions, including cirrhosis of the liver, even in non-drinkers. McGinty, who spoke to “The Gael” about his condition and shared his family’s experience suffered from fatigue and joint pain, but thought little of it. His grandmother, a strict non-drinker from Co. Cork, died of cirrhosis of the liver. “We wondered where that came from,” he said, “she was a complete teetotaler. The likelihood exists, “said McGinty, “that liver failure from Hemochromatosis has inflated the picture of Irish drinking. Everyone would figure that the cirrhosis came from drinking. They’d figure, “you know the Irish. ‘

There is no cure for the condition, but the treatment is simple and very effective. Periodic blood draining, similar to blood donating helps take iron out of the system and lessens iron build up in the organs. The body then produces new blood that is iron-free. According to the American Hemochromatosis Society, early treatment allows for a completely normal and unaffected life. Despite the frequency of the condition and the easy treatment, information about the condition is frustratingly limited among many in the medical community

McGinty’s experience is all too common. ‘When I worked, my company paid for a physical every two years until I was 40, then, one every year. Every time I had blood work done and the iron count was off the scales, but no one ever said anything Then I switched to a general practitioner, and the same thing happened.” Finally, curiosity about the condition led to further testing. “I found out I had a pretty serious condition that everyone had been totally missing all along.” When he was finally in the hands of a specialist, McGinty learned that the annual blood tests should have been warning enough for his doctors that he had Hemochromatosis. Unfortunately, they apparently knew little about America’s number one genetic disorder.

McGinty began the blood letting that he will continue for the rest of his life. Interestingly, he was an annual blood donor at work, which slowed the process. Unfortunately, even though there is no chance of “catching” the condition through a transfusion of “contaminated” blood. The blood taken from him was thrown out. “That’s the sad thing. It’s such a waste, but my doctor said that the Red Cross would simply throw the blood out because I’m being treated for a blood condition.” Greater awareness could lead to a change in this practice, allowing those with the condition to make regular blood donations at no cost to themselves and to the benefit of blood banks everywhere.

DNA testing has made the condition easier to diagnose. Previously, a more painful and expensive liver biopsy was the surest confirmation. Any doctor or lab can administer these tests, along with the serum iron, TIBC and serum feritin. Doctors can also be referred to the American Hemochromatosis Society for further information. Hemochromatosis has diminished the quality of untold lives, especially among those of Irish heritage. Fortunately it can be easily and cheaply defeated.

A number of our close friends suffer from this disorder, and no one could ever tell. One of our own members, turned down for an insurance policy because of elevated liver enzymes in his blood, tried to determine the cause of the elevation. In a myriad of tests he was diagnosed with Hepatitis - both A and B - and finally was sent for a biopsy by a specialist who was aware of the condition. The conclusion was not hepatitis, but Hemochromatosis. From this experience our member learned that the disease, if left untreated, could be fatal. Fortunately today, he has no problem!

The mutant gene that causes the disorder was discovered at Mercator Genetics, a biotechnology firm in California. Dr. Elliot Sigal, President of Mercator, said, “The scientific community has been searching for this gene for 20 years.” The gene is hereditary, and why it persists is unknown. As the body builds defenses against disease, elements, or environment, the evolutionary process developed this gene in the Irish. Doctors James Barton and Luigi Bertoli at the Brookwood Medical Center believe that the carriers of this gene gain some evolutionary advantage under certain conditions. When asked to elaborate, they said, “Storing iron may extend survival under starvation conditions.” There is no way to determine when this evolutionary gene was developed in the Irish race, but some think that it may be yet another legacy of the prolonged periods of starvation that the Irish people had to endure throughout their history.

If you are of Irish decent, have your blood checked for ferritin levels; it could save your life.

This article appeared in “The National Hibernian Digest”, November-December 2000