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Hemochromatosis

Hemochromatosis
Genetics, Pathophysiology, Diagnosis and Treatment

Ronald T. Acton, Paul C. Adams, Richard S. Ajioka, Gregory J. Anderson, Fernando A. Arosa, B. R. Bacon, William P. Baldus, James C. Barton, Kenneth P. Batts, Roy D. Baynes, Luigi F. Bertoli, Ernest Beutler, Peter D. Bloom, Herbert L. Bonkovsky, Sylvia S. Bottomley, David J. Brandhagen, Pierre Brissot, Gary Brittenham, Robert S. Britton, Jeremy H. Brock, K. E. Brown, Alan Buchanan, Zaneta J. Bulaj, J. J. Bullen, Wylie Burke, Gale R. Burstein, José M. Cabeda, M. D. Cappellini, Joseph Cappuccio, Carla Cardoso, J. Chevrant-Breton, Hans Clevers, Mary E. Cogswell, Marcel E. Conrad, Cathy Conry-Cantilena, James D. Cook, Maria de Sousa, Yves Deugnier, Keith F. Eckerman, Corwin Q. Edwards, Virgil F. Fairbanks, S. Fargion, José Fraga, Adele L. Franks, Yves Gandon, Victor R. Gordeuk, Linda M. Griffen, Jeffrey R. Gruen, Dominique Guyader, June W. Halliday, Leigh Harman, Chaim Herschko, Elizabeth C. Jazwinska, J. P. Kaltwasser, Muin J. Khoury, Harvey G. Klein, Avraham M. Konijn, Kris V. Kowdley, James P. Kushner, Rosa Lacerda, Richard W. Lambrecht, Richard W. Leggett, Gabriela Link, Olivier Loréal, J. J. M. Marx, Sharon M. McDonnell, Christine E. McLaren, Gordon D. McLaren, Nils Milman, Elizabeth G. Moore, Joseph B. Muhlestein, Richard L. Nelson, Claus Niederau, Richard T. Parmley, Pradyumna D. Phatak, Alberto Piperno, Graça Porto, Lawrie W. Powell, Ruma Raha-Chowdhury, Grant A. Ramm, Marina Rull, M. Sampietro, Manuela Santos, Ralph Schumacher Jr, Barry S. Skikne, Joseph E. Smith, Georg Strohmeyer, Jay N. Umbreit, C. H. Walsh, David L. Witte, Jacqueline Yaouanq
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  • Date Published: January 2000
  • availability: Temporarily unavailable - available from TBC
  • format: Hardback
  • isbn: 9780521593809

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About the Authors
  • 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.

    • The most comprehensive clinical reference yet
    • Written by an international team of expert clinicians and scientists
    • Includes the latest developments in genetics
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    Reviews & endorsements

    '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, Oncology

    See more reviews

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    Product details

    • Date Published: January 2000
    • format: Hardback
    • isbn: 9780521593809
    • length: 616 pages
    • dimensions: 286 x 225 x 48 mm
    • weight: 2.47kg
    • contains: 90 b/w illus. 40 colour illus. 103 tables
    • availability: Temporarily unavailable - available from TBC
  • 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.

  • Editors

    James C. Barton, Southern Iron Disorders Center, Alabama

    Corwin Q. Edwards, University of Utah

    Contributors

    Ronald T. Acton, Paul C. Adams, Richard S. Ajioka, Gregory J. Anderson, Fernando A. Arosa, B. R. Bacon, William P. Baldus, James C. Barton, Kenneth P. Batts, Roy D. Baynes, Luigi F. Bertoli, Ernest Beutler, Peter D. Bloom, Herbert L. Bonkovsky, Sylvia S. Bottomley, David J. Brandhagen, Pierre Brissot, Gary Brittenham, Robert S. Britton, Jeremy H. Brock, K. E. Brown, Alan Buchanan, Zaneta J. Bulaj, J. J. Bullen, Wylie Burke, Gale R. Burstein, José M. Cabeda, M. D. Cappellini, Joseph Cappuccio, Carla Cardoso, J. Chevrant-Breton, Hans Clevers, Mary E. Cogswell, Marcel E. Conrad, Cathy Conry-Cantilena, James D. Cook, Maria de Sousa, Yves Deugnier, Keith F. Eckerman, Corwin Q. Edwards, Virgil F. Fairbanks, S. Fargion, José Fraga, Adele L. Franks, Yves Gandon, Victor R. Gordeuk, Linda M. Griffen, Jeffrey R. Gruen, Dominique Guyader, June W. Halliday, Leigh Harman, Chaim Herschko, Elizabeth C. Jazwinska, J. P. Kaltwasser, Muin J. Khoury, Harvey G. Klein, Avraham M. Konijn, Kris V. Kowdley, James P. Kushner, Rosa Lacerda, Richard W. Lambrecht, Richard W. Leggett, Gabriela Link, Olivier Loréal, J. J. M. Marx, Sharon M. McDonnell, Christine E. McLaren, Gordon D. McLaren, Nils Milman, Elizabeth G. Moore, Joseph B. Muhlestein, Richard L. Nelson, Claus Niederau, Richard T. Parmley, Pradyumna D. Phatak, Alberto Piperno, Graça Porto, Lawrie W. Powell, Ruma Raha-Chowdhury, Grant A. Ramm, Marina Rull, M. Sampietro, Manuela Santos, Ralph Schumacher Jr, Barry S. Skikne, Joseph E. Smith, Georg Strohmeyer, Jay N. Umbreit, C. H. Walsh, David L. Witte, Jacqueline Yaouanq

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