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9780521593809

Hemochromatosis: Genetics, Pathophysiology, Diagnosis and Treatment

by
  • ISBN13:

    9780521593809

  • ISBN10:

    0521593808

  • Format: Hardcover
  • Copyright: 2000-02-28
  • Publisher: Cambridge University Press

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Summary

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.

Table of Contents

List of contributors
ix
Foreword xv
Anthony S. Tavill
Part I Introduction to hemochromatosis
A brief history of hemochromatosis
3(5)
James C. Barton
Hemochromatosis: a genetic definition
8(7)
Corwin Q. Edwards
Richard S. Ajioka
James P. Kushner
Part II Genetics of hemochromatosis
Inheritance of hemochromatosis: family studies
15(27)
Nils Milman
Hemochromatosis: population genetics
42(9)
Virgil F. Fairbanks
Variation of hemochromatosis prevalence and genotype in national groups
51(12)
Graca Porto
Maria de Sousa
Human leukocyte antigen (HLA) association and typing in hemochromatosis
63(12)
Jacqueline Yaouanq
Localization, allelic heterogeneity, and origins of the hemochromatosis gene
75(16)
Ruma Raha-Chowdhury
Jeffrey R. Gruen
The ancestral haplotype in hemochromatosis
91(8)
Elizabeth C. Jazwinska
Evidence for multiple hemochromatosis genes
99(8)
Ernest Beutler
Part III Metal absorption and metabolism in hemochromatosis
Intestinal iron-binding proteins
107(11)
Barry S. Skikne
Intestinal iron absorption and hemochromatosis
118(13)
Marcel E. Conrad
Jay N. Umbreit
Elizabeth G. Moore
Richard T. Parmley
The absorption and metabolism of non-ferrous metals in hemochromatosis
131(14)
James C. Barton
Ferritin metabolism in hemochromatosis
145(12)
Gregory J. Anderson
Grant A. Ramm
June W. Halliday
Lawrie W. Powell
Hepatic iron metabolism in hemochromatosis
157(6)
K. E. Brown
Bruce R. Bacon
Extra-hepatic iron metabolism in hemochromatosis
163(7)
Gordon D. McLaren
Mathematical models of metal metabolism in hemochromatosis
170(7)
Richard W. Leggett
James C. Barton
Keith F. Eckerman
Expression of iron overload in hemochromatosis
177(10)
Alberto Piperno
Part IV Diagnostic techniques for iron overload
Liver biopsy in hemochromatosis
187(13)
William P. Baldus
Kenneth P. Batts
David J. Brandhagen
Histochemistry of iron and iron-associated proteins in hemochromatosis
200(19)
James C. Barton
Luigi F. Bertoli
Computed tomography and magnetic resonance imaging in the diagnosis of hemochromatosis
219(10)
Dominique Guyader
Yves Gandon
Part V Complications of iron overload
Mechanisms of iron toxicity
229(10)
Robert S. Britton
Iron as a carcinogen
239(11)
Yves Deugnier
Olivier Loreal
Clinical spectrum of hepatic disease in hemochromatosis
250(8)
Pierre Brissot
The arthropathy of hemochromatosis
258(10)
Marina Rull
H. Ralph Schumacher Jr
Diabetes mellitus and hemochromatosis
268(10)
Georg Strohmeyer
Claus Niederau
Non-diabetic endocrinopathy in hemochromatosis
278(12)
C. H. Walsh
Cutaneous manifestations of hemochromatosis
290(7)
J. Chevrant-Breton
Cardiac abnormalities in hemochromatosis
297(15)
Joseph B. Muhlestein
Estimate of the frequency of morbid complications of hemochromatosis
312(6)
Corwin Q. Edwards
Linda M. Griffen
Zaneta J. Bulaj
Richard S. Ajioka
James P. Kushner
Juvenile hemochromatosis
318(11)
J. P. Kaltwasser
Part VI Therapy of hemochromatosis and iron overload
Management of hemochromatosis
329(10)
James C. Barton
Sharon M. McDonnell
Paul C. Adams
Pierre Brissot
Lawrie W. Powell
Corwin Q. Edwards
James D. Cook
Kris V. Kowdley
Chelation therapy in iron overload
339(16)
Chaim Herschko
Gabriela Link
Avraham M. Konijn
Liver transplantation and hemochromatosis
355(4)
Paul C. Adams
Survival in hemochromatosis
359(12)
Claus Niederau
Georg Strohmeyer
Part VII Infections and immunity in hemochromatosis
Role of iron in infections and immunity
371(10)
Jeremy H. Brock
Bacterial infections in hemochromatosis
381(6)
James J. Bullen
Chronic viral hepatitis and hemochromatosis
387(9)
Kris V. Kowdley
T-lymphocyte expression and function in hemochromatosis
396(15)
Maria de Sousa
Graca Porto
Fernando A. Arosa
Carla Cardoso
Jose M. Cabeda
Rosa LaCerda
Jose Fraga
Part VIII Hemochromatosis heterozygotes
The iron phenotype of hemochromatosis heterozygotes
411(8)
Corwin Q. Edwards
Linda M. Griffen
Zaneta J. Bulaj
Richard S. Ajioka
James P. Kushner
Ascertainment of hemochromatosis heterozygosity
419(8)
Christine E. McLaren
Disease risk in hereditary hemochromatosis heterozygotes
427(8)
Richard L. Nelson, Jr
Part IX Relationship of hemochromatosis to other disorders
Thalassemias and their interactions with hemochromatosis
435(7)
Silvia Fargion
M. Sampietro
M. D. Cappellini
Iron overload in sideroblastic and other non-thalassemic anemias
442(11)
Sylvia S. Bottomley
Hemochromatosis, iron overload, and porphyria cutanea tarda
453(15)
Herbert L. Bonkovsky
Richard W. Lambrecht
Interactions of alcohol, iron and hemochromatosis
468(7)
Roy D. Baynes
Iron overload in African Americans
475(12)
Peter D. Bloom
Gale R. Burstein
Victor R. Gordeuk
Part X Animal models of hemochromatosis and iron overload
β2-microglobulin-deficient mice as a model for hemochromatosis
487(7)
Manuela Santos
J. J. M. Marx
Hans Clevers
Maria de Sousa
Animal models of iron overload based one excess exogenous iron
494(14)
Grant A. Ramm
Naturally occurring iron overload in animals
508(11)
Joseph E. Smith
Part XI Screening for hemochromatosis
Screening tests for hemochromatosis
519(6)
David L. Witte
Cost-effectiveness of screening for hemochromatosis
525(10)
Joseph Cappuccio
Pradyumna D. Phatak
Part XII Hemochromatosis: societal and ethical issues
Hemochromatosis: effect of iron fortification of foods
535(9)
James D. Cook
Evidence for population-based testing for hemochromatosis
544(11)
Mary E. Cogswell
Sharon M. McDonnell
Muin J. Khoury
Adele L. Franks
Wylie Burke
Gary Brittenham
Ethical issues and hemochromatosis
555(9)
Allen Buchanan
Norman Fost
Hemochromatosis patients as blood and tissue donors
564(10)
Cathy Conry-Cantilena
Harvey G. Klein
Genetic counseling for hemochromatosis
574(9)
Ronald T. Action
Leigh Harman
Part XIII Final issues
Hemochromatosis: problems to be solved and directions for future investigations
583(6)
Corwin Q. Edwards
James C. Barton
Index 589

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