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
3 - Inheritance of hemochromatosis: family studies
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 is an inherited disorder of iron metabolism characterized by excessive iron absorption that leads to parenchymal iron overload and eventually to organ damage. For nearly half a century, hemochromatosis was recognized as a separate disease entity before it was suggested by Sheldon that it could be an inborn error of metabolism. For many years the disease was named idiopathic or primary hemochromatosis, but over time evidence for the hereditability of hemochromatosis became compelling. The discovery by Simon in the 1970s that hemochromatosis was closely associated to certain human leukocyte antigens (HLA), i.e., HLA-A and HLA-B, is persuasive evidence of its hereditability. Subsequent epidemiologic surveys showed that hemochromatosis is one of the most common heritable disorders, with a prevalence of homozygosity of approximately 0.5% and a prevalence of heterozygosity of 10–15%. The high prevalence makes homozygote-heterozygote matings common, and thus a pseudodominant mode of inheritance. The discovery of specific molecular genetic markers for hemochromatosis has had a profound influence on understanding of this disorder. It will enable us to perform valid screening of the populations and to identify reliably persons at risk in affected families, and to obtain data on the expression and penetrance of the gene(s) in homozygous and heterozygous individuals.
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- Information
- HemochromatosisGenetics, Pathophysiology, Diagnosis and Treatment, pp. 15 - 41Publisher: Cambridge University PressPrint publication year: 2000
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