A practical, clinically-oriented handbook of iron overload disorders giving a compact guide to normal iron metabolism, iron-related pathobiology, and the diagnosis and management of heritable and acquired iron overload disorders. Many of these disorders were discovered and characterized only in the last decade, and are unmentioned or inadequately described in most texts. Written by clinicians for clinicians, this handbook summarizes information on diverse iron overload conditions, including their history, signs, symptoms, physical examination findings, genetics, genotype-phenotype correlations, pathophysiology, differential diagnosis and treatment. Most physicians, regardless of specialty, encounter patients with systemic or organ-specific iron overload conditions. This book contains essential information for practising adult and pediatric medical specialists in the fields of hematology, gastroenterology, hepatology, rheumatology, endocrinology, diabetology, neurology, oncology, dermatology and internal medicine. Pathologists, pharmacologists, geneticists, genetic counselors and epidemiologists will also find substantial, up-to-date sections in this handbook that are pertinent to their respective fields of interest.
Foreword; Preface; 1. History of iron overload disorders; 2. Normal iron absorption and metabolism; 3. Iron toxicity; 4. Tests for hemochromatosis and iron overload; 5. Complications of hemochromatosis and iron overload; 6. Insulin resistance and iron overload; 7. Infections and immunity; 8. Classical and atypical hfe hemochromatosis; 9. Heterozygosity for hfe c282y; 10. Porphyria cutanea tarda; 11. Mitochondrial mutations as modifiers of hemochromatosis; 12. Hemochromatosis associated with ferroportin gene (slc40a1) mutations; 13. Hemochromatosis associated with hemojuvelin gene (hjv) mutations; 14. Hemochromatosis associated with hepcidin gene (hamp) mutations; 15. Hemochromatosis associated with transferrin receptor-2 gene (tfr2) mutations; 16. Iron overload associated with ire mutation of ferritin heavy-chain gene (fth1); 17. Hereditary hyperferritinemia-cataract syndrome: ire mutations of ferritin light chain gene (ftl); 18. Iron overload in native Africans and African Americans; 19. Hereditary atransferrinemia; 20. Divalent metal transporter-1 (dmt1) iron overload; 21. Iron overload associated with thalassemia syndromes; 22. Iron overload associated with hemoglobinopathies; 23. Iron overload associated with pyruvate kinase deficiency; 24. Iron overload associated with congenital dyserythropoietic anemias; 25. Hereditary sideroblastic anemias; 26. Pearson marrow-pancreas syndrome; 27. Acquired sideroblastic anemias; 28. Hereditary aceruloplasminemia; 29. Friedreich ataxia and cardiomyopathy; 30. Pantothenate kinase (pank2)-associated neurodegeneration; 31. Neuroferritinopathies; 32. Gracile syndrome; 33. Neonatal hemochromatosis; 34. Iron overload due to excessive supplementation; 35. Localized iron overload; 36. Management of iron overload; 37. Population screening for hemochromatosis; 38. Ethical, legal, and social issues; 39. Directions for future research; Index.