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Discovering your "Celtic Connection"

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Do you have the "Celtic Curse"

Are you Irish!? Scottish? Celtic ancestry?

New research finds high frequency of HH gene mutations in the Irish community!

If you have a Celtic heritage, ancestors from Ireland, Wales, Scotland, or Great Britain, then you are at high risk for carrying the HFE mutations for hereditary hemochromatosis (HH), also known as iron overload disease or iron storage disease according to researchers on both sides of the Atlantic Ocean.

Hereditary hemochromatosis (HH) has been dubbed the "Celtic Curse" by Sandra Thomas, President and Founder of the American Hemochromatosis Society (AHS), based in Lake Mary, Florida. HH is the most common genetic disease in the USA according to the US Centers for Disease Control and Prevention (CDC) in Atlanta, Georgia. HH is also the most common genetic disease in Ireland where a great deal of research and studies of this disease are being conducted.

Sandra's mother, Josephine Bogie Thomas, died on May 13, 1999 of primary liver cancer/hepatocellular carcinoma due to cirrhosis of the liver caused by hereditary hemochromatosis in Pittsburgh, Pennsylvania where she had gone for liver cancer treatments. Josephine Thomas had strong Irish, Scottish and British lines in her family tree and she carried the two major HH mutations known as cys282 gene mutations. Her daughter, Sandra, is a "silent carrier" of the same mutation. The family tree contains such names as Cooper, Bogie, Ball, Kavanaugh, and Tandy. Little did she know when she visited Ireland that she was visiting the area of the world where hemochromatosis is thought to have originated.

Researchers believe that HH originated at least 40,000 years ago in the area we now know as Ireland with a single ancestor whose genes mutated to over-absorb iron from what was then a very poor iron diet and famine conditions. This was nature's way of over-compensating for the lack of iron in the diet at that time. Today, the descendants of these ancient Celtic persons have iron fortified foods as well as an easy trip to the grocery for a steak, but their bodies still carry these ancient "survival" gene mutations which don't know when to stop absorbing iron from a normal diet. Therefore, those people who descended from this ancestor carry the mutations which absorb too much iron until it reaches toxic levels. Excess iron has no way to leave the body but by bleeding.

Unlike our ancestors, we have a plentiful supply of iron, enriched breakfast cereals, enriched breads, and iron pills which you can buy over the counter (OTC). Iron, therefore, is potentially dangerous to the unsuspecting person who carries these mutations and even though one in eight people of Northern European ancestry have this mutation (that's 32 million Americans), most of them do not know it. They may not know it, but they easily could know it through a simple genetic/DNA test that has been commercially available since 1997.

Geoffrey Block, MD, a hepatologist (liver specialist) and former director of the Hemochromatosis Center at the University of Pittsburgh Medical Center (UPMC) in Pittsburgh, Pennsylvania, states, "the appearance of the HFE gene mutation occurred somewhere from 40,000-60,000 years ago. Human DNA goes back to somewhere between 120,000-200,000 years ago. The ethnogenetic source for the C282Y (HFE) mutation arose in the Celtic 'empire'. Most people think that Celtic means Ireland, however, the Celts of 40-60,000 years ago covered Ireland to just west of Moscow, north to the upper reaches of Scandinavia, south into Spain and Portugal, and south east across the Italian peninsula and north of Greece and Turkey/Iraq."

In 1996, the gene mutations for HH were identified and a simple test developed to analyze the DNA of a person to see if they might have these mutations. People of other ethnic backgrounds may also have these mutations if their ancestors had children with carriers of the HH mutations. DNA test kits which can be used at home are now available and are fast, no pain, no blood, no needles, and are relatively inexpensive at $205 for the first family member and $150 for each additional family member being tested (available through www.healthcheckusa.com).

Other ethnic groups can also have the mutations but it is much more infrequent (i.e. Asian or Jewish). People with northern European ancestry are highest at risk with family bloodlines that go to France, Germany, and the Scandinavian countries.

The following abstract from Dublin, Ireland discusses hereditary hemochromatosis:

(note: In Ireland, England, and Australia, hemochromatosis is spelled haemochromatosis)

HAEMOCHROMATOSIS - AN IRISH DISEASE

E. Ryan, V. Byrnes, A-M Flanagan, J. Crowe
Department of Hepatology, Mater Misericordiae Hospital, Dublin Ireland
(Hepatology Vol. 28, No.4, pt.2, October 1998; page 527A, abstract nr.1459; this is a special edition!)

It has been hypothesized that the genetic mutation leading to iron overload occurred in a race of Celtic origin and that the HLA-A3 allele might represent a marker of their migratory patterns (1) This hypothesis has recently been substantiated by the observation that individuals of British/Irish ancestry may be at particular risk of developing genetic haemochromatosis (HG) (2).

Furthermore, preliminary data on the global prevalence of the C282Y

mutation found the highest allele frequency in the Irish (45 Individuals) (3).

Aims: The purpose of this study was to estimate the frequencies of the C282Y and H63D mutations in an Irish population.

Methods: Eighty-seven individuals responded to a payroll request for voluntary participation in the study. DNA was extracted and subjected to PCD using primers encompassing the C282Y and H63D mutations sites.

Following amplification, the PCR products were digested with RsaI and MboI for C282Y and H63D respectively. Restriction digests were separated on Nusieve gels and viewed under UV light.

Results:

C282Y Homozygote: 0

C282Y Heterozygote: 26

C282Y normal: 61

H63D Homozygote: 4

H63D Heterozygote: 15

H63D normal: 68

Of 87 volunteers, 26 were heterozygous for C282Y indicating an allele frequency of 15%, and 19 were heterozygous for H63D indicating an allele frequency of 11%. (there were 4 compound heterozygotes i.e. were heterozygous for both mutations).

Conclusion; The allele frequency of 15% for C282Y indicates a prevalence of 1:45 for GH. This is the highest reported prevalence worldwide and suggests an Irish origin for GH. This prevalence is not observed clinically which may represent underdiagnosis or incomplete penetrance in the Irish.

References:

(1) Simon M, Fauchet R, Hespel, JP, et all; Gastroenterology 1980; 78: 703-708.

(2) Smith BN, Kantrowitz, W; et al; Hepatology 1997; 25: 1439-1446

(3) Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJ, J. Med Genetics 1997; 34: 275-278.

Another abstract illustrating frequency of this disease in patients of this heritage:

J Med Genet 1997 Apr;34(4):275-8

Global prevalence of putative haemochromatosis mutations.

Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJ

MRC Molecular, Haematology Unit, John Radcliffe Hospital, Headington, Oxford,UK.

Haemochromatosis is a genetic disease associated with progressive iron overload, and is common among populations of northern European origin. HLA-H is a recently reported candidate gene for this condition. Two mutations have been identified, a substitution of cysteine for tyrosine at amino acid 282 (C282Y, nucleotide 845) and of histidine for aspartate at amino acid 63 (H63D, nucleotide 187). Over 90% of UK haemochromatosis patients are homozygous for the C282Y mutation. We have examined 5956 chromosomes (2978 people) for the presence of HLA-H C282Y and H63D by PCR followed by restriction enzyme analysis. We have found world wide allele frequencies of 1.9% for C282Y and 8.1% for H63D. The highest frequencies were 10% for C282Y in 90 Irish chromosomes and 30.4% for H63D in 56 Basque chromosomes. C282Y was most frequent in northern European populations and absent from 1042 African chromosomes, 484 Asian chromosomes, and 644 Australian chromosomes. The distribution of the C282Y mutation coincides with that of populations in which haemochromatosis has been reported and is consistent with the theory of a north European origin for the mutation. The H63D polymorphism is more widely distributed and its connection with haemochromatosis remains unclear.

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Sandra Thomas states, "we all have to die of something, but it doesn't have to be hereditary hemochromatosis".

For more information about hereditary hemochromatosis please call the American Hemochromatosis Society (AHS) national toll free info hotline at: 1-888-655-IRON (4766) or visit their web page at: www.americanhs.org or email Sandra Thomas, AHS President at: mail@americanhs.org and ask about the "Celtic Connection Genetics Project" (CCGP) or send a SASE business size envelope with two first class stamps on it to:

American Hemochromatosis Society
4044 W. Lake Mary Blvd., #104, PMB 416
Lake Mary, Florida 32746-2012 U.S.A.

An article from the Irish Medical Times describes hemochromatosis again as a disease of Celtic origin:

Irish Medical Times-- http://209.207.246.178/

Gene mutation and haemochromatosis linked Most patients with haemochromatosis have one of two recently identified mutations on gene HFE, a new study has shown. In their research, the doctors said that determining the genotype of patients with high transferrin levels, documented liver disease and suspected iron overload may be useful in diagnosing haemochromatosis. But in an accompanying editorial, a leading expert in the field cautioned that existing evidence does not indicate patients with high transferrin levels should undergo genetic testing for this disorder, or that genetic testing in the general population is desirable.

In Ireland the prevalence of hereditary haemochromatosis is greater than that of cystic fibrosis, phenylketonuria and muscular dystrophy combined, writes Dr Valerie Byrnes* Haemochromatosis, an hereditary Celtic disease Hereditary haemochromatosis (HH) is a condition where intestinal iron absorption is increased leading to excessive iron accumulation in tissue and resultant organ damage. It is inherited in an autososmal recessive manner and represents one of the most common inherited diseases among individuals of Northern European descent. In Ireland its prevalence is greater than that of cystic fibrosis, phenylketonuria and muscular dystrophy combined.

It is estimated that the mutation occurred about 55,000 years ago and that it was beneficial to individuals living on an iron poor diet. This mutation may have occurred in Ireland and spread with the Irish diaspora; initially to Scandinavia with the Vikings and much later to England, the United States and Australia.

The gene for HH named the HFE gene was cloned in 1996 and is located on chromosome 6p. It results in a single amino acid change from cysteine to tyrosine at position 282 (C282Y). Between 83-100 per cent of HH patients worldwide are found to be homozygous (i.e. two copies of the mutant gene) for this gene. In Ireland 93 per cent of HH patients are homozygous for the HFE mutation. A second mutation has also been described (H63D). Its role in HH is less clear; however a high percentage of patients who have HH but have only one copy of the C282Y mutation also have a copy of the H63D mutation (i.e. compound hetero zygotes).

 

Symptoms: The classic triad of hyperpigmentation of the skin, hepatomegaly and diabetes mellitus (bronze diabetes) is rarely seen nowadays with increasing availability and use of simple and inexpensive laboratory studies (serum transferrin saturation and serum ferritin). Patients may present in middle age to their general practitioner complaining of chronic fatigue, arthritis (pseudogout), loss of libido or impotence.

Laboratory features: An increase in the serum transferrin saturation, caused by both an increase in serum iron and a decrease in total iron binding capacity, continues to be the single most useful screening test. The higher the critical value that is chosen for the transferrin saturation, the greater the specificity, but the less the sensitivity. A reasonable value appears to be about 50 per cent. Patients with values of greater than 50% should have a repeat serum iron and TIBC carried out under fasting conditions. If the transferrin iron continues to be elevated the patient should be assumed to have haemochromatosis until proven otherwise. The most common abnormalities of liver chemistries are mild elevations in serum transaminases (ALT or ALT). These are nearly always less than three times the normal limit unless there is advanced liver disease or other contributing causes for liver disease. Serum alkaline phosphatase may be mildly increased, particularly when cirrhosis is present. Serum bilirubin, albumin, total protein, prothrombin time are usually normal until relatively late in the course of the disease. Thus it is essential to consider HH in the differential diagnosis of all patients with mildly elevated serum amino transferases.

Genetic testing: Genetic testing is readily available in this country in the Mater Misericordiae Hospital, The National Genetic Centre, Crumlin, University College Hospital, Galway. Whole blood collected in 2.7m1 EDTA tubes may be sent to the laboratory for DNA extraction and PCR detection analysis for both C282Y and H63D mutations. An individual who is homozygous for C282Y mutation in the presence of elevated transferrin saturation has HH and should be considered for a liver biopsy. An individual who is heterozygote for either mutation is unlikely to have HH as the carrier frequency for both mutations is as high as 15-20 per cent in Ireland. An individual who is a compound heterozygote (i.e. a copy of each mutation) in the presence of elevated iron indices may have HH and should also be considered for liver biopsy.

Liver Biopsy: Liver biopsy provides tissue for histological grading of iron storage (grade I-IV) and for assessment of the stage of the disease. The hepatic iron concentration (HIC) and the hepatic iron index (HII) may be calculated. The HII is the HIC divided by the age of the individual and a value of greater than 1.9 will identify most individuals with HH.

Family Screening: Screening is offered to first degree relatives of the index case. A third of spouses of Irish HH patients have proven to carry a single copy of the HFE mutation thus increasing the possibility of a proband in the second generation. During the course of screening one may identify an individual who is homozygote for the HFE mutation but has a normal iron profile (i.e. non-expressing homozygotes). It is recommended that these individuals should have yearly iron biochemical indices carried out.

Treatment: Treatment comprises weekly venesection until the ferritin is reduced to 20-30ng/ml. In conjunction with decreasing ferritin one may witness a rise in the transferrin saturation. This may be ignored and venesection continued according to ferritin only. It is important not to render these patients anaemic and spot haemoglobins should be carried out prior to each venesection. After the initial iron depletion, fasting iron profile should be carried out on a three monthly basis and venesection according to the rise in ferritin. Dietary restriction of iron rich food and moderate alcohol consumption is not considered useful or necessary.

The Future for Haemochromatosis: The preliminary data from a study of the incidence of the C282Y mutation in Ireland indicates that the heterozygote state is as high as one in five with the homozygote state as high as one in a hundred. Clearly this genetic incidence is not reflected clinically and whether this is as result of the under diagnosis of the disease (due to the relative lack of symptoms until liver disease is well established), or as a result of incomplete penetrance of the gene needs to be ascertained. *Dr Valerie Byrnes MRCPI GI Registrar Hepatobiliary Unit Mater Hospital Dublin 7.

 

© Irish Medical Times

Do you have hereditary hemochromatosis, the "Irish Illness"?

Are you one of the 45+ million people living in the United States who claim "Irish descent"? Are you Irish/Scottish/Celtic?

You might have iron overload/hereditary hemochromatosis (HH)! In the USA, 1 in 8 people have the single mutation for HH and 1 in 200 have the double mutation which usually results in clinical iron overload which is potentially fatal unless diagnosed and treated. Recent studies in Ireland show an even higher frequency rate of 1 in 4 as carriers and 1 in 64 with the double gene mutation. That means in the USA alone, there is an estimated 5,625,000 Irish-Americans who are mutation carriers and 225,000 Irish-Americans who have the double mutation. But the "luck o' the Irish" still prevails, because this disease has a simple, safe treatment, and a way to prevent all the devastating symptoms and premature death that can occur.

What are the symptoms?

Toxic levels of iron accumulate in the vital body organs causing: chronic fatigue, diabetes, early menopause, impotence, infertility, arthritis/joint replacement, heart disease, hypothyroidism, liver cirrhosis, (with or without a history of alcohol consumption), liver cancer, premature death. With early detection and appropriate treatment, all of these "symptoms" can be completely avoided.

You can protect yourself by finding out your genetic risk with DNA testing and having your blood tested by your doctor with these tests: serum iron TIBC (total iron binding capacity) and serum ferritin. By practicing preventive medicine, you and your doctor can protect future generations through awareness and proper treatment of HH. To order a DNA tissue collect kit, please call: Kimball Genetics Testing Lab at: 1-800-320-1807 or for direct testing with confidential results sent directly and only to you, contact: www.healthcheckusa.com

The good news is that iron overload is easily treatable through bloodletting, identical to a blood donation, and the patient can have a normal life expectancy is diagnosed early and treated aggressively. This condition affects men, women, and children, and routine screening is a goal which needs to be realized. The tests are easy and can be performed by any doctor of lab: serum iron, TIBC (total iron binding capacity), serum ferritin, and DNA testing by PCR. With these tests, anyone can rule out or confirm a diagnosis. Anyone wishing more information, all free, may email me at mail@americanhs.org or ask their doctor to test them with the tests listed above or visit the AHS web page at: www.americanhs.org

Media may also wish to contact Sharon McDonnell, MD at the U.S. Centers for Disease Control and Prevention (CDC) in Alanta, Georgia for more information concerning this national health issue.

Through greater awareness, we can detect and save the 1.5 million Americans with HH and identify the 32 million Americans who are "silent carriers" of the HH mutation. HH doesn't have to be the "Celtic Curse" as it is known by many, but the "Good News Disease" if caught early and treated aggressively.

My mother had hereditary hemochromatosis (HH) and she has Irish/Scottish ancestry (Kavanaugh/Tandy). I am a "silent carrier" of the mutation. We want to let the public know that men, women, and children can be affected by hemochromatosis, but they can have a normal life expectancy through education and early screening, diagnosis and treatment for hereditary hemochromatosis.

I'm here to help the public know more about HH and the Irish community....if you have any questions, please contact me.

Sandra Thomas, President/Founder American Hemochromatosis Society, Inc. (AHS) non profit mail@americanhs.org

CELTS. Among the ancient European peoples were the warlike Celts--muscular, red-haired wanderers who probably came from the distant steppes beyond the Caspian Sea. By 500 BC they were living in northeastern France, southwestern Germany, and Bohemia. The Celts, who were also called Gauls, continued to migrate in all directions.

About 400 BC Celtic tribes crossed the Swiss Alps into northern Italy. After capturing the fertile Po Valley region, they laid siege to Rome (see Roman Empire). At the same time other groups of Celts pushed down into France and Spain, eastward to Asia Minor, and westward to the British Isles. To what is now France they gave the ancient name of Gaul.

In Asia Minor they founded the kingdom of Galatia. St. Paul's Epistle to the Galatians in the New Testament is addressed to the descendants of these Celts. In Britain, Celtic warriors overran and conquered the islands.

Celtic Life and Religion

The Celts were organized loosely in tribes. Each tribe had a chief, nobles, freemen, and slaves. Usually it lived in a fortified village, often built on a hilltop, with fields and pastures outside. The tribes often fought each other. If one tribe conquered several others, its chief took the title of king.

The Celts brought many new skills to the peoples they conquered. They knew how to smelt iron and forge it into useful implements. They decorated their helmets, shields, and arms with artistic metalwork and enameling. The Celts were also adept in such practical matters as curing hams, keeping bees, and making wooden barrels.

Celtic priests were called druids, and their religion, druidism. Little is known of the druids because their rites were never written down. Apparently their gods were similar to those of other early peoples. The druids of Gaul were both judges and priests who sacrificed criminals to their gods. The druids of Britain were chiefly religious teachers.

Only men of good family could become druids. Membership was highly prized because druids did not have to fight or pay taxes. The druids taught that the soul was immortal, passing after death from one person to another. They deemed the mistletoe sacred, especially if grown on an oak tree. The oak was also sacred, and druids often held their rites in an oak forest. Wise in the lore of plants, animals, and stars, the druids were also magicians and astrologers. Many ancient stone monuments were once thought to have been built by druids, but scientists now date them from pre-Celtic times.

Celtic Decline The Celtic domination of Western Europe lasted only a few centuries. In time the Romans made Italy, Gaul, and much of Britain into Roman provinces. The Carthaginians overpowered the Celts in Spain, and German tribes drove the Celts out of the Rhine Valley. Following the Roman conquest, the Anglo-Saxon invasion wiped out most traces of Celtic culture in England. Only on the fringe of Europe did the Celts manage to keep their distinctive traits and languages--in Brittany, the Isle of Man, Wales, Ireland, and the Scottish Highlands. There traces of Celtic culture still survive in folklore and in the Breton, Manx, Welsh, Erse, and Gaelic languages.

The name Celtic Renaissance was given to a revival of interest in Celtic languages, literatures, and history, which began in the late 1800s. The revival was especially strong in Ireland, where it led to the writing of plays with Irish-Celtic themes. Erse, or Irish Gaelic, is now an official language of Ireland. (See also Ireland; Irish Literature.) Compton's Encyclopedia Online v2.0 © 1997 The Learning Company, Inc.

Irish & Scottish Heritage? What you should know.....

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The hemochromatosis gene has been referred to as the "British Gene" as well as the "Viking Gene" and hemochromatosis has been dubbed the "Celtic Curse", the "Irish Illness" and the "Scottish Sickness"....why? Recent research in Ireland has shown a high frequency of hereditary hemochromatosis; a 1 in 4 carrier rate and 1 in 64 double gene mutation. If you have Irish/Scottish/Celtic heritage, you may be at even higher risk for hereditary hemochromatosis than previously thought...play it safe and have the DNA test and the serum tests: serum iron, TIBC, and serum ferritin to make sure that you don't have iron overload/hereditary hemochromatosis....