Are You Cursed With Hemochromatosis?
In the past few months a number of people in the Vancouver Irish community have been diagnosed with hereditary hemochromatosis (HHC), often referred to as the Celtic curse because of its origins. If one or both of your parents were born in Ireland or if you are of Celtic origin, this should concern you because you too are vulnerable to this curse.
It could be slowly killing you as you read this column and you would never know until it was too late. Yes, Sláinte is trying to scare you. She wants you to get tested for this disease. Caught in time it can be treated but caught very early it can be prevented.
According to the American Hemochromatosis Society, about 40,000 years ago one of our Celtic ancestors was born with a chance mutation in the C282Y HFE gene. This mutated gene causes the body to absorb too much iron. Since two mutations, one on each of the two chromosomes, are needed to develop HHC, our mutated baby ancestor did not develop the disease; he was just a carrier or a heterozygote.
When he reached puberty, half of his sperm contained the mutated gene and the other half were normal. If our baby was female, half her eggs would carry the mutated gene. The one normal gene in heterozygotes is enough to prevent HHC but the mutated gene does slightly increase iron absorption.
After several generations the gene passed into the general Celtic population and it was just a matter of time before two mutated HFE carriers produced children who inherited a mutated gene from each parent (a homozygote). This ancestor was the first person to develop HHC. He was able to have children and pass this defect onto them because HHC doesn't usually kill until middle age.
All of his (or her) children were at least heterozygotes with one mutated gene. If his children were by a woman who also had two mutated HFE genes, all of their children develop HHC. While heterozygotes or carriers do not develop HHC like homozygotes, they do absorb more iron than normal, which increases their risk of heart disease in middle age.
Today, it is estimated that one in 200 persons in the United States and Canada has HHC and one in 10 persons is a carrier. Next time you go to a party, look around. If there are 100 people present, 10 will be carriers for the disorder.
However, if you are at a function in the Irish community, like a feis, the risk jumps. Among individuals who have two Irish born parents, at least 1 in 4 are carriers. This means that in your child's four-hand reel, it is likely that at least one of the team members is a carrier. It may ever be your child.
If you are at an Irish football game, the Irish team will have at least four carriers on the field and one may be your husband or wife. Among those with two Irish-born parents, the risk of developing HHC is one in 64. At the Irish dance championships there will be at least five people with HHC and chances are they have not a clue that they are slowly dying.
The normal GI tract absorbs one or two milligrams of iron a day from the food eaten. People with HHC can absorb three or four milligrams a day. That excess iron has to go somewhere so the body stashes it away in the liver, the joints, the heart, the pancreas, the pituitary gland, the skin and the bone marrow.
There the iron acts like a wrench in a machine preventing the organ from doing its job and eventually causing it to fail. Carriers of the gene may absorb a small bit more iron than normal and this can increase their risk of heart disease as they get older.
Early symptoms are general and hard to diagnose. They include achy joints, particularly in the knuckles of the first two fingers, memory problems, fatigue, weakness, and abdominal pain. Sometimes you may even be diagnosed with fibromyalgia or chronic fatigue syndrome based on these symptoms.
As more iron is deposited you may lose your interest in sex and men may lose their ability to have sex. Women may stop having their periods or go through the change of life at an early age. Both sexes may feel short of breath and become easily winded.
The skin may even take on a bronze color as iron is deposited in skin cells. This is why HHC is often caused bronze diabetes; iron deposited in the skin causes it to take on a bronze color while the iron in the pancreas causes diabetes. Up to 15 percent of cases of adult onset diabetes is caused by HHC.
With advanced disease comes: arthritis; low pituitary function; thyroid disorders; diabetes or glucose intolerance; an enlarged heart, abnormal heart rhythms or heart failure; and abnormal liver function tests, cirrhosis, or liver cancer. However, some people with HHC have no symptoms at all.
Advanced HHC is also easily misdiagnosed. A family history of liver disease or cancer may be, in fact, a family history of HHC. Your father's Alzheimer's and your memory problems may be HHC. Your type two diabetes may be HHC.
If you are of Celtic descent, especially if your parents are Irish born, you owe it to yourself, your family, and your community to be tested for hemochromatosis. Sláinte had herself tested several years ago just to make sure her fibromyalgia was not HHC. The test is easy: it only requires a few vials of blood. The two tests to request are transferrin saturation test and serum ferritin. Sometimes a liver biopsy or genetic tests are necessary for a definite diagnosis.
HHC is the most common genetic disease in the U.S. and Canada, yet testing for it is not part of the routine physical. Don't be surprised if your doctor is unaware of the connection between your Celtic ancestry and HHC.
Fortunately this disease is very easily treated. It's a treatment that will not only save the patient's life but the lives of many others. The old term for this treatment is blood letting and the current medical term is therapeutic phlebotomy (fle-bot-o-me). You know it as blood donation.
The person with HHC has red blood cells that are chock full of iron and when blood is donated their body needs to replace that lost iron from the organs where it is stored. In this way the stored iron is gradually removed from the organs along with the red blood cells.
Sometimes it may be necessary to donate up to three times a week. Iron supplements and high doses of vitamin C also need to be avoided. Once iron free, the affected organs will return to normal unless tissue damage or cancer has occurred.
If your biology is rusty, this fun site will explain the genetics of HHC by using interactive computer graphics: www.yourgenesyourhealth.org/hc/whatisit.htm.
A list of websites with trustworthy information about HHC can be found at www.nlm.nih.gov/medlineplus/hemochromatosis.html. The Canadian Hemochromatosis Society has a toll free number (Canada only): 1-877-BAD-IRON. Or you can go to their website at www.cdnhemochromatosis.ca/main.htm. The American Hemochromatosis Society has a toll free hotline (US only): 1-888-655-IRON and their website is at: www.americanhs.org. For information on genetic testing for HHC, go to: www.genetichealth.com/Hemochromatosis_Home.shtml.
Sláinte!
|
