Book contents
- Frontmatter
- Contents
- List of contributors
- Foreword
- Part I Introduction to hemochromatosis
- Part II Genetics of hemochromatosis
- 3 Inheritance of hemochromatosis: family studies
- 4 Hemochromatosis: population genetics
- 5 Variation of hemochromatosis prevalence and genotype in national groups
- 6 Human leukocyte antigen (HLA) association and typing in hemochromatosis
- 7 Localization, allelic heterogeneity, and origins of the hemochromatosis gene
- 8 The ancestral haplotype in hemochromatosis
- 9 Evidence for multiple hemochromatosis genes
- Part III Metal absorption and metabolism in hemochromatosis
- Part IV Diagnostic techniques for iron overload
- Part V Complications of iron overload
- Part VI Therapy of hemochromatosis and iron overload
- Part VII Infections and immunity in hemochromatosis
- Part VIII Hemochromatosis heterozygotes
- Part IX Relationship of hemochromatosis to other disorders
- Part X Animal models of hemochromatosis and iron overload
- Part XI Screening for hemochromatosis
- Part XII Hemochromatosis: societal and ethical issues
- Part XIII Final issues
- Index
4 - Hemochromatosis: population genetics
from Part II - Genetics of hemochromatosis
Published online by Cambridge University Press: 05 August 2011
- Frontmatter
- Contents
- List of contributors
- Foreword
- Part I Introduction to hemochromatosis
- Part II Genetics of hemochromatosis
- 3 Inheritance of hemochromatosis: family studies
- 4 Hemochromatosis: population genetics
- 5 Variation of hemochromatosis prevalence and genotype in national groups
- 6 Human leukocyte antigen (HLA) association and typing in hemochromatosis
- 7 Localization, allelic heterogeneity, and origins of the hemochromatosis gene
- 8 The ancestral haplotype in hemochromatosis
- 9 Evidence for multiple hemochromatosis genes
- Part III Metal absorption and metabolism in hemochromatosis
- Part IV Diagnostic techniques for iron overload
- Part V Complications of iron overload
- Part VI Therapy of hemochromatosis and iron overload
- Part VII Infections and immunity in hemochromatosis
- Part VIII Hemochromatosis heterozygotes
- Part IX Relationship of hemochromatosis to other disorders
- Part X Animal models of hemochromatosis and iron overload
- Part XI Screening for hemochromatosis
- Part XII Hemochromatosis: societal and ethical issues
- Part XIII Final issues
- Index
Summary
Introduction
Hemochromatosis has a distinctive distribution that reflects the movements of people of northwestern Europe during historic times. The ‘major’ hemochromatosis gene in northern Europeans is linked to the HLA gene locus, and occurs with greatest frequency among the populations of the countries that surround the North Sea. These countries include Norway, Denmark, Iceland, western and southern Germany, the United Kingdom, Ireland, and France (particularly in the Brittany peninsula) (Fig. 4.1; Table 4.1). Within Sweden, there is considerable variation in prevalence of hemochromatosis from one area to another. The gene frequency appears to be lower in southern Italy and in western Russia. Hemochromatosis occurs in Portugal Spain, Estonia, Hungary, and northern Italy, but more data are needed to clarify the prevalence and the gene frequency in these countries. Hemochromatosis is rare in Finland, Greece, Turkey, North Africa and Asia. The prevalence of hemochromatosis has not been ascertained in most of eastern Europe. Frequency of the hemochromatosis gene is low in Ashkenazic Jews. In countries that have large populations derived principally from the North Sea littoral, including Canada, the United States, South Africa, Australia and New Zealand, the prevalence of hemochromatosis mirrors that of the parent populations of Europe.
Source of the hemochromatosis mutations
The striking geographic distribution of hemochromatosis has led to the conjecture that hemochromatosis is the result of a relatively recent mutation (one that has occurred in hundreds of generations) that occurred in a Celtic population.
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- Information
- HemochromatosisGenetics, Pathophysiology, Diagnosis and Treatment, pp. 42 - 50Publisher: Cambridge University PressPrint publication year: 2000
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