Hemochromatosis : Genetics, Pathophysiology, Diagnosis and Treatment

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Once thought rare, hemochromatosis is now acknowledged as one of the commonest inherited disorders, affecting one in two hundred people of western Caucasian descent. It is estimated to affect over one million people in the USA alone. This is the most comprehensive clinical reference yet on hemochromatosis. The international author team includes specialists in internal medicine, hematology, hepatology, genetics, biochemistry and molecular biology, and the contents cover all aspects of pathophysiology, epidemiology, diagnosis and treatment. The latest developments in the genetics of the disorder are well explained, and there are sections on screening, diagnostic techniques, and clinical complications. Social and ethical issues are also considered. Highly illustrated, up-to-date and authoritative, this is the definitive resource for all clinicians involved in the management of hemochromatosis, and will also be invaluable to scientists interested in iron metabolism and iron overload.show more

Product details

  • Electronic book text
  • Cambridge University Press (Virtual Publishing)
  • Cambridge, United Kingdom
  • 90 b/w illus. 40 colour illus. 103 tables
  • 1139244086
  • 9781139244084

Review quote

'This is 'the bible' of hemochromatosis ... This is the best, most comprehensive review of hemochromatosis and iron metabolism that I have ever encountered. It will become a required reference for anyone treating or researching this disease.' Lisa Boggio, MD 'James Barton and Corwin Edwards have assembled a distinguished international array of nearly 100 contributors to cover every aspect of the subject. It is a massive undertaking and is the current definitive text on haemochromatosis. Clearly written and well referenced, there are reviews by researchers - many of whom have been leaders in this topic for over 30 years.' James S. Dooley, The Lancet 'Throughout this book, the reader can feel the excitement sparked by the discovery of the hemochromatosis (HFE) gene ... Specialists will find up-to-date information and invaluable bibliographic resources ... The book contains discussions of important issues related to screening for hemochromatosis and a remarkable chapter on social and ethical issues.' The New England Journal of Medicine 'Clearly written and well referenced, there are reviews by researchers - many of whom have been leaders in this topic for over 30 years ... comprehensive and informative reference text. Hemochromatosis will be valuable not only for scientists and clinicians who are involved in this area, but also for individuals who need a state-of-the-art review of a specific issue.' James S. Dooley, The Lancet Barton and Edwards have assembled experts from around the world to write highly authoritative articles about all aspects of hemochromatosis. Molecular genetics, genetic epidemiology, pathophysiology, clinical management, and screening are the main topics. Ethical and social issues related to hemochromatosis are also considered. Throughout this book, the reader can feel the excitement sparked by the discovery of the hemochromatosis (HFE) gene. This book is particularly strong in its coverage of clinical genetics ... This book, written by 93 diverse authors, is nevertheless a tight collection of compelling and informative chapters, each one contributing to the cogency of the overall discussion.' The New England Journal of Medicine 'Hemochromatosis reflects the current wealth of clinical and experimental progress in the area, and reviews the changing understanding of the disorder, its cause, diagnosis, and management.' James S. Dooley, The Lancet 'This large volume is a remarkable resource of information about haemochromatosis, ranging from the history to social and ethical issues of genetic testing, and including some topics which usually receive little attention, such as the absorption for other metals and infections and immunity.' Mark Worwood, Hum Genet 'Excellent.' Journal of Gastroenterology '... highlights the importance and advances made relative to hemochromatosis and places this disease in perspective not only as an important entity in inherited disease but in all systematic medicine.' G. Falkson, Oncologyshow more

Table of contents

Foreword; Part I. Introduction to Hemochromatosis: 1. A brief history of hemochromatosis; 2. Hemochromatosis: a genetic definition; 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. Localisation, 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: 10. Intestinal iron-binding proteins; 11. Intestinal iron absorption and hemochromatosis; 12. The absorption and metabolism of non-ferrous metals in hemochromatosis; 13. Ferritin metabolism in hemochromatosis; 14. Hepatic iron metabolism in hemochromatosis; 15. Extra-hepatic iron metabolism in hemochromatosis; 16. Mathematical models of metal metabolism in hemochromatosis; 17. Expression of iron overload in hemochromatosis; Part IV. Diagnostic Techniques for Iron Overload: 18. Liver biopsy in hemochromatosis; 19. Histochemistry of iron and iron-associated proteins in hemochromatosis; 20. Computed tomography and magnetic resonance imaging in the diagnosis of hemochromatosis; Part V. Complications of Iron Overload: 21. Mechanisms of iron toxicity; 22. Iron as a carcinogen; 23. Clinical spectrum of hepatic disease in hemochromatosis; 24. The arthropathy of hemochromatosis; 25. Diabetes mellitus and hemochromatosis; 26. Non-diabetic endocrinopathy in hemochromatosis; 27. Cutaneous manifestations of hemochromatosis; 28. Cardiac abnormalities in hemochromatosis; 29. Estimate of the frequency of morbid complications of hemochromatosis; 30. Juvenile hemochromatosis; Part VI. Therapy of Hemochromatosis and Iron Overload: 31. Management of hemochromatosis; 32. Chelation therapy in iron overload; 33. Liver transplantation and hemochromatosis; 34. Survival in hemochromatosis; Part VII. Infections and Immunity in Hemochromatosis: 35. Role of iron in infections and immunity; 36. Bacterial infections in hemochromatosis; 37. Chronic viral hepatitis and hemochromatosis; 38. T-lymphocyte expression and function in hemochromatosis; Part VIII. Hemochromatosis Heterozygotes: 39. The iron phenotype of hemochromatosis heterozygotes; 40. Ascertainment of hemochromatosis heterozygosity; 41. Disease risk in hereditary hemochromatosis heterozygotes; Part IX. Relationship of Hemochromatosis to Other Disorders: 42. Thalassemias and their interactions with hemochromatosis; 43. Iron overload in sideroblastic and other non-thalassemic anemias; 44. Hemochromatosis, iron overload, and porphyria cutanea tarda; 45. Interactions of alcohol, iron, and hemochromatosis; 46. Iron overload in African Americans; Part X. Animal Models of Hemochromatosis and Iron Overload: 47. Beta-2 microglobulin-deficient mice as a model for hemochromatosis; 48. Animal models of iron overload based on excess exogenous iron; 49. Naturally occurring iron overload in animals; Part XI. Screening for Hemochromatosis: 50. Screening tests for hemochromatosis; 51. Cost-effectiveness of screening for hemochromatosis; Part XII. Hemochromatosis: Societal and Ethical Issues: 52. Hemochromatosis: effect of iron fortification of foods; 53. Iron overload, public health and genetics: evaluating the evidence for hemochromatosis screening; 54. Ethical issues and hemochromatosis; 55. Hemochromatosis patients as blood and tissue donors; 56. Genetic counseling for hemochromatosis; Part XIII. Final Issues: 57. Problems to be solved and directions for future investigations.show more