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Written by some of the world’s leading authorities on haemoglobin disorders, this second revised edition of Guidelines for the Clinical Management of Thalassaemia provides medical professionals with a clear, comprehensive guide to the optimal treatment of thalassaemia, based on scientific evidence, clinical studies and observations. The information provided here has been meticulously compiled by experts fully aware of the many different circumstances in which medical personnel strive to treat patients with thalassaemia. As such, it sets out to provide a full guide to the treatment to which every patient everywhere is entitled, including access to sufficient quantities of safe blood and iron chelation therapy, as well as offering a comprehensive assessment of groundbreaking advances in chelation therapy, other treatment options and the long-awaited final cure, including stem cell transplantation and gene therapy.
Contents
- EDITORS AND AUTHORS
- AUTHORS OF CHAPTERS
- CO-ORDINATING EDITOR
- ACKNOWLEDGEMENTS
- Foreword
- Introduction
- 1. Genetic Basis and Pathophysiology
- 2. Blood Transfusion Therapy in β-Thalassaemia Major
- 3. Iron Overload
- The Rate of Iron Loading
- Toxicity from Iron Overload
- Monitoring of Iron Overload
- Treatment of Iron Overload
- Desferrioxamine (Desferal® or deferoxamine)
- Unwanted effects of desferrioxamine
- Dose-related complications
- Recommended standard therapy
- Practical issues with subcutaneous infusion
- Deferiprone (Ferriprox®, Kelfer®, L1)
- Unwanted effects with deferiprone
- Combined Desferrioxamine and Deferiprone
- Evidence of efficacy of combined treatments
- Deferasirox (Exjade)
- Unwanted effects with deferasirox
- Recommended treatment regimens with deferasirox
- 4. Endocrine Complications In Thalassaemia Major
- 5. Management of Fertility and Pregnancy in β-thalassemia
- 6. Diagnosis and Management of Osteoporosis in β-thalasaemia
- 7. The Management of Cardiac Complications in Thalassaemia Major
- 8. The Liver in Thalassaemia
- Hepatitis C Virus (HCV)
- Natural history and complications of infection
- Special features of hepatitis C in thalassaemia major
- Diagnosis and monitoring
- Treatment
- Treatment regimens
- Hepatitis B Virus (HBV)
- Natural history
- Prevention
- HBV 2007 Treatment Overview (Hepatitis Annual Update 2007 website:http://clinicaloptions.com/Hepatitis/AnnualUpdates)
- 9. Infections in Thalassaemia Major
- 10. Splenectomy in β-thalassaemia
- 11. Thalassaemia Intermedia and HbE
- Definition
- Mechanism of TI
- Differential diagnosis
- Pathophysiology of Thalassaemia Intermedia (TI)
- Complications and management of TI
- Splenomegaly and Splenectomy
- Gall stones and cholecystectomy
- Extramedullary haematopoiesis
- Kidney stones
- Leg ulcers
- Thrombophilia
- Pulmonary hypertension and congestive heart failure
- Hepatitis
- Endocrine function
- Pregnancy in TI
- Iron overload
- Osteoporosis (also see chapter on osteoporosis)
- Pseudoxanthoma elasticum (PXE)
- Management of thalassaemia intermedia
- Splenectomy
- Transfusion therapy and iron chelation
- Modulation of fetal haemoglobin production
- Bone marrow transplantation
- Recommendations for the management of thalassaemia intermedia
- Definition of β-thalassaemia/HbE
- Mild β-thalassaemia/HbE
- Moderately severe β-thalassaemia/HbE
- Severe β-thalassaemia/HbE
- Complications and management of β-thalassaemia/HbE
- 12. Stem Cell Transplantation
- 13. Alternative Approaches to the Treatment of Thalassaemia
- 14. Gene Therapy: Current Status and Future Prospects
- 15. Psychological Support in Thalassaemia
- Why is psychological support so important?
- The psychology of inherited chronic disease
- Communication: healthcare professionals with patients
- Caring for a ‘normal’ development
- Communication of diagnosis
- Psychological impact of anaemia and transfusion
- Psychological aspects of chelation therapy
- Psychological impact of complications
- Challenges for the adult patient
- Summary of psychological goals
- 16. General Health Care and Lifestyle in Thalassaemia
- 17. Organisation and Programming of a Thalassaemia Centre
- 18. Outline of Diagnostic Dilemmas in Thalassaemia
- REFERENCES
- GROWTH CHARTS
- About Thalassaemia International Federation
Dedication
The authors dedicate this book to George, Ahmad, Giovanna, Nicos, Meigui, Sumitra, Christine, Minh-Quan, Hamid, Pranee, Eduard, Karim, and all other patients with thalassaemia, who are not with us any more but whose will and determination to live have inspired researchers and health professionals across the world to promote scientific knowledge and quality care.
It is our fervent hope that this book will serve not only as a manual for promoting clinical management, but also as a tool for improving communication and collaboration amongst all of those, patients, parents, health professionals and others who are striving towards the same goal, the establishment of effective control of thalassaemia and the promotion of equal access to quality health care for every patient with Thalassaemia.
- NLM CatalogRelated NLM Catalog Entries
- Review Guidelines for the Management of Transfusion Dependent Thalassaemia (TDT)[ 2014]Review Guidelines for the Management of Transfusion Dependent Thalassaemia (TDT)Cappellini MD, Cohen A, Porter J, Taher A, Viprakasit V. 2014
- International network on endocrine complications in thalassaemia (I-CET): an opportunity to grow.[Georgian Med News. 2012]International network on endocrine complications in thalassaemia (I-CET): an opportunity to grow.De Sanctis V, Soliman AT, Angastiniotis M, Eleftheriou A, Kattamis Ch, Karimi M, El Kholy M, Elsedfy H, Yassin MA, El Awwa A, et al. Georgian Med News. 2012 Apr; (205):52-7.
- Review Optimal management of β thalassaemia intermedia.[Br J Haematol. 2011]Review Optimal management of β thalassaemia intermedia.Taher AT, Musallam KM, Cappellini MD, Weatherall DJ. Br J Haematol. 2011 Mar; 152(5):512-23. Epub 2011 Jan 20.
- Review Haemoglobin disorders in Australia: where are we now and where will we be in the future?[Intern Med J. 2016]Review Haemoglobin disorders in Australia: where are we now and where will we be in the future?Crighton G, Wood E, Scarborough R, Ho PJ, Bowden D. Intern Med J. 2016 Jul; 46(7):770-9.
- Review Updating of hereditary haemoglobin disorders.[Mymensingh Med J. 2002]Review Updating of hereditary haemoglobin disorders.Rahman ME, Parveen R, Chowdhury AM, Khan MI. Mymensingh Med J. 2002 Jan; 11(1):49-53.
- Guidelines for the Clinical Management of ThalassaemiaGuidelines for the Clinical Management of Thalassaemia
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