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Herditary Hemachromatosis - European Genetic FootprintPart 5: European Footprint: Hereditary Hemochromatosis - Tracking European ancestry through a genetically inherited disease Hereditary Hemochromatosis (HHC) is a disease which affects only Europeans – and the measure of this disease can be used to determine the amount of pure White European element in any given geographical region. Unsurprisingly, HHC is most prevalent in northern Europe, and least prevalent in southern Europe – this once again tying in with the already discussed prevalence of the Black African originated prevalence of sickle cell syndrome in that part of Europe. HHC IS AN IRON METABOLISM DISORDER According to the US-based Center for Disease Control (CDC): “Hereditary Hemochromatosis (HHC) is an autosomal recessive disorder of iron metabolism characterized by increased iron absorption and deposition in the liver, pancreas, heart, joints, and pituitary gland. In 1996, HFE, the gene for HHC, was mapped on the short arm of chromosome 6 (6p21.3). Two of the 37 allelic variants of the HFE gene described to date (C282Y and H63D) are significantly correlated with HHC.” – CDC, “HFE Gene and Hereditary Hemochromatosis” by E. H. Hanson, G. Imperatore, W. Burke, March 12, 2001 (Updated) http://www.cdc.gov/genetics/hugenet/reviews/HFE.htm HHC IS AN INHERITED GENETIC DISEASE “Hereditary Hemochromatosis is a genetic disease that is the result of inheriting two defective copies of a particular gene, one from each parent. The mutation in this gene causes the intestine to absorb too much iron. Over time, usually several years, this excess iron is deposited in the cells of the liver, heart, pancreas, joints, and pituitary gland. If left untreated, organ damage can result.” – Center for Disease Control, Atlanta, USA http://www.cdc.gov/nccdphp/dnpa/Hemochromatosis/faq.htm “Hemochromatosis is a genetic disease, often most prevalent among people of northern European descent. This means that Hemochromatosis is inherited. A person will be born with Hemochromatosis only if two Hemochromatosis genes are inherited - one from the mother and one from the father.” – University of Maryland, USA, http://www.umm.edu/blood/hemachro.htm HHC IS FOUND ONLY AMONGST EUROPEANS The Center for Disease Control confirms that HHC is an exclusively European disease: “In the general population, the frequency of the C282Y/C282Y genotype is 0.4%. C282Y heterozygosity ranges from 9.2% in Europeans to nil in the Asian, Indian subcontinent, African/Middle Eastern, and Australasian populations.” – CDC, “HFE Gene and Hereditary Hemochromatosis” by E. H. Hanson, G. Imperatore, W. Burke, March 12, 2001 (Updated) http://www.cdc.gov/genetics/hugenet/reviews/HFE.htm Hence the CDC reports the overall incidence of HHC in Europe and North America as similar, this being due to the similar genetic origins of the majority of the present day population of those regions: (H63D is a variant of C282Y): “C282Y/H63D compound and H63D homozygosity each accounted for 2 percent of the European general population and 2.5 percent and 2.1 percent in the American populations, respectively. The carrier frequency of the H63D mutation was 22 percent in Europe and 23 percent in North America.” – CDC, “HFE Gene and Hereditary Hemochromatosis” by E. H. Hanson, G. Imperatore, W. Burke, March 12, 2001 (Updated) http://www.cdc.gov/genetics/hugenet/reviews/HFE.htm “A homozygous single point mutation of the HFE gene (G to A at nucleotide 845, causing a cysteine to a tyrosine substitution at residue 282, C282Y) occurs in 80-100% of patients with HH of predominantly northern European ancestry but is less frequent in southern Europeans. The allelic frequency in a Celtic-derived population is of the order of 14%. For other ethnic groups it is much less and is said to be absent in Asian, African, and non-Caucasian American groups.” – The American Journal of Gastroenterology, December 2000, Volume 95, Number 12, Pages 3350-3352 http://www-east.elsevier.com/ajg/issues/9512/ajg3344edi.htm “Hereditary Hemochromatosis (HH) is a common genetic disorder, especially among northern Europeans; one in 300 Britons are affected by HHC.” – Gene Letter Organization, “Confounded: Widespread screening for hereditary Hemochromatosis faces obstacles” by Maimon M. Cohen, PhD, http://www.geneletter.org/10-02-00/features/Hemochromatosis.html LOW RATE OF SOUTHERN EUROPEAN HHC SHOWN IN GENETIC STUDIES Alleles are any of two or more genes that have the same relative position on chromosomes and are responsible for specific characteristics. Homozygosity is the condition used to describe an organism which has identical alleles for any one gene; heterozygosity is used to describe a condition where an organism has dissimilar alleles for any one gene. With these definitions in mind, the following comment from the CDC about the measurement of HHC incidence in Europe is insightful: “A total of 6,203 samples from European countries revealed on average a C282Y homozygous and heterozygous prevalence of 0.4 percent and 9.2 percent, respectively. However, C282Y homozygosity has not been reported in the general population of Southern or Eastern Europe. The frequency of the C282Y heterozygosity is 1 to 3 percent in Southern and Eastern Europe and as high as 24.8 percent in Ireland.” – CDC, “HFE Gene and Hereditary Hemochromatosis” by E. H. Hanson, G. Imperatore, W. Burke, March 12, 2001 (Updated) http://www.cdc.gov/genetics/hugenet/reviews/HFE.htm LOW INCIDENCE OF HHC DOES NOT MEAN THAT THERE ARE NO WHITE SOUTHERN EUROPEANS The lack of HHC in southern Europe does of course not mean that there are no pure White Europeans in southern Europe. All it means is that the incidence of HHC, which is in any event a small percentage of any given White population, is smaller in these regions due to the reduced number of unmixed Whites living in those areas. Hence the above quotes from the CDC show that the incidence of HHC in northern Europe varies from 24.8 percent to 9.2 percent, compared to 1 to 3 percent in south eastern Europe. The presence of HHC in southern Europe, in decreased percentage, is merely an indicator of the overall lower percentage of pure Whites in the region, and the fact that HHC is present in southern Europe is proof that there are unmixed Whites present there, albeit in smaller numbers than northern Europe. When read with the effect of sickle cell, the lower incidence of HHC confirms the accuracy of historical accounts which tell of the racial mixing which affected southern Europe over the course of history. GENE LETTER ORGANIZATION CONFIRMS HHC DIFFERENTIATION FROM “NORTH TO SOUTH” IN EUROPE An October 2000 study from the respected ‘Gene Letter Organization,’ about the HHC genetic disorder, had the following to say about the north/south gradient evident in HHC incidence, cutely calling Europeans “Celts”: “Although the C282Y mutation in the HFE gene is the most common cause of disease among members of northern European communities with a possible Celtic origin, a survey of 40 populations demonstrates a distinct north-south gradient of decreasing frequency across the continent. Reinforcing this distribution pattern is a low frequency of the C282Y mutation among 1300 recently examined Italian newborns. This suggests that widespread screening in Italy would not be cost effective, but that instead, it might be useful in northern Italy with its Celt-derived populations. Because mutation frequencies may differ considerably among the different components of a population of mixed national, racial, and ethnic composition, screening efficiency may be compromised.” Gene Letter Organization, “Confounded: Widespread screening for hereditary Hemochromatosis faces obstacles” by Maimon M. Cohen, PhD, http://www.geneletter.org/10-02-00/features/Hemochromatosis.html This study shows that in northern Italy, which was subjected to a renewed invasion by European Lombards after the fall of the Roman Empire, has the largest incidence of HHC in Italy – once again confirming the accuracy of historical accounts which tell of the fall of the Roman Empire and the replenishment of Italy’s European stock by renewed White invasions AFTER that Empire’s fall. Once again, it needs to be stressed that the lower rate of HHC in southern Europe does NOT mean that there are no pure Whites in southern Europe – merely that, expressed as a percentage of the smaller (than northern Europe) White population, the incidence of HHC is correspondingly smaller. Part 1: Racial Mixing in Selected European Groups: IntroductionPart 2: The Black African Genetic Footprint: Sickle Cell DiseasePart 3: Racial Mixing Brought the Hemoglobin D disorder to Britain and IrelandPart 4: The Mendelian Laws of Genetics - dominant and recessive racially mixed genes Part 5: European Footprint: Hereditary Hemochromatosis - a genetically inherited diseasePart 6: Genetic Evidence of Avar and Hunnish Admixture in Central EuropePart 7: Western European Genetic Remnants in EgyptPart 8: Genetic Evidence of Racial Mixing in Greece Part 9: Genetic Evidence of Racial Mixing in ItalyPart 10: Genetic Evidence of Racial Mixing in PortugalPart 11: Genetic Evidence of Racial Mixing in SpainPart 12: Genetic Homogeneity in Poland Part 13: Genetic Homogeneity in NorwayPart 14: Finland, the Lapps and the Tat-C ControversyPart 15: Y-Chromosomes as Racial Markers White History Main Page