The full costs of treating patients with inherited disorders of haemoglobin is extremely variable among countries depending on different health care systems, varying methods of obtaining blood, different practices in screening for blood pathogens and different costs of drugs and equipment. It is evident that all countries would benefit from the sharing of experience and expertise in order to harmonize and optimize the quality of treatment as much as possible. The need for management guidelines for Transfusion Dependent Thalassaemias (TDT) is clear. Throughout the past four years, six major TDT management guidelines became available for use by thalassaemia care givers (TIF, US, Canadian, UK, Italian and Australian Guidelines). A comparison among those guidelines has been recently published (Musallam KM et al. Acta Haematologica 2013). In light of a swiftly evolving evidence, the need for revisiting and updating TDT management recommendations remains crucial. More importantly, ensuring access to such guidelines and careful application and implementation should only help arriving at early diagnosis of morbidity to allow prompt and effective management. It would also allow early prediction of risk and would enable preventive measures to be set in place saving unnecessary health care costs.

This updated third edition of the TIF guidelines will offer valuable information to all allied healthcare professionals involved in the treatment of patients with TDT. It includes updated information on new approaches for more effective, safe and less laborious treatment, and an overview of the progress achieved to date towards a total cure using methods such as gene therapy and stem cell transplantation.

Contents

• Acknowledgement
• EDITORS AND AFFILIATIONS
• AUTHORS, REVIEWERS AND AFFILIATIONS
• INDEPENDENT REVIEWERS AND AFFILIATIONS
• FOREWORD
• THE NEED FOR GUIDELINES AND THEIR IMPLEMENTATION
• 1. GENETIC BASIS, PATHOPHYSIOLOGY AND DIAGNOSIS
  Vip Viprakasit, Raffaella Origa, and Suthat Fucharoen.
  • Haemoglobin Types
  • Globin Genes And Globin Synthesis
  • The Thalassaemias: Definitions And Worldwide Distribution
  • Spectrum of Thalassaemia Syndromes
  • β-Thalassaemia
  • Beta Structural Haemoglobin Variants Relevant to Thalassaemia Management
  • α-Thalassaemia
  • References
• 2. BLOOD TRANSFUSION
  Sara Trompeter, Alan Cohen, and John Porter.
  • Goals of Blood Transfusion Therapy
  • Quality and Adequacy of Blood
  • Whom to Transfuse
  • Recommended Blood Product
  • Methods for leucoreduction include:
  • Blood Products for Special Patient Populations
  • Storage of Donor Red Cell Units
  • Compatibility Testing
  • Transfusion Programmes
  • Transfusion and the Spleen
  • Adverse Reactions
  • Summary and Recommendations
  • References
• 3. IRON OVERLOAD AND CHELATION
  John Porter, Vip Viprakasit, and Antonis Kattamis.
  • The Rate of Iron Loading
  • Toxicity from Iron Overload
  • Monitoring of Iron Overload
  • Treatment of Iron Overload
  • Practical prescribing of individual chelators
  • Summary and Recommendations
  • Appendix 1
  • Appendix 2
  • Appendix 3
  • References
• 4. CARDIAC COMPLICATIONS IN THALASSAEMIA MAJOR
  Malcolm Walker, John Wood, and Ali Taher.
  • Cardiac Dysfunction
  • Arrhythmias
  • Pulmonary Hypertension
  • Peripheral Vascular Disease
  • Summary and Recommendations
  • References
• 5. LIVER DISEASE
  Pierre Brissot and Maria Domenica Cappellini.
  • Hepatic Iron Overload in Thalassaemia
  • Chronic Hepatitis C in Thalassaemia
  • Chronic Hepatitis B in Thalassaemia
  • Non-Alcoholic Fatty Liver Disease In Thalassaemia
  • Summary and Recommendations
  • References
• 6. THE SPLEEN
  Ali Taher, Paul I Tyan, and Maria Domenica Cappellini.
  • Indications for Splenectomy
  • Splenectomy and Peri-operative Complications
  • Concomitant Cholecystectomy
  • Splenectomy Adverse Events
  • Summary and Recommendations
  • References
• 7. INFECTIONS
  Yesim Aydinok, Suthat Fucharoen, and Maria Domenica Cappellini.
  • Therapy Related Risks of Infections in TDT and Preventive Measures
  • Fundamental principles for providing safe blood:
  • Preventative measures include:
  • Suspicion and approach to transfusion related bacterial sepsis:
  • Preventative measures for bacterial sepsis:
  • Suspicion and approach to OPSI:
  • Disease Related Risks of Infections in TDT and Preventive Measures
  • Infectious Agents in Thalassaemia - Diagnosis and Treatment
  • Treatment:
  • Treatment:
  • Fungal infections
  • Summary and Recommendations
  • Key recommendations include:
  • References
• 8. ENDOCRINE DISEASE
  Vincenzo De Sanctis, Nikos Skordis, Ashraf. T Soliman, and Alan Cohen.
  • Short Stature and Retarded Growth
  • Diagnosis and investigations
  • Treatment
  • Delayed Puberty and Hypogonadism
  • Hypothyroidism
  • Impaired Glucose Tolerance (IGT) and Diabetes Mellitus (DM)
  • Diagnosis
  • Hypoparathyroidism (HPT)
  • Adrenal Insufficiency
  • Summary
  • References
• 9. FERTILITY AND PREGNANCY
  N Skordis, John Porter, and Gabriel Kalakoutis.
  • Management of Subfertility in Females
  • Male Fertility and Induction of Spermatogenesis
  • Pre-Pregnancy Counseling
  • Risks Associated with Pregnancy
  • Management of Pregnancy
  • Summary and Recommendations
  • References
• 10. OSTEOPOROSIS
  Ersi Voskaridou, Evangelos Terpos, and Ali Taher.
  • Definitions
  • Biology of Normal Bone Metabolism
  • Pathogenesis
  • Management of Thalassaemia-Associated Osteoporosis
  • Summary and Recommendations
  • References
• 11. DENTAL CARE
  Navdeep Kumar, Faiez N Hattab, and John Porter.
  • Oro-facial Features
  • Risk Assessment for Delivery of Dental Care
  • Practical Management
• 12. HAEMOPOIETIC STEM CELL TRANSPLANTATION
  Emanuele Angellucci, Alok Srivastava, Sara Usai, and Maria Domenica Cappellini.
  • Overview of Evidence
  • Summary and Recommendations
  • References
• 13. ALTERNATE AND NOVEL APPROACHES
  Vijay G Sankaran, Maria Domenica Cappellini, and Ali Taher.
  • Overview of Evidence
  • Summary and Recommendations
  • References
• 14. GENE THERAPY
  Michel Sadelain, Farid Boulad, Isabelle Riviere, Aurelio Maggio, and Ali Taher.
  • Rationale for Globin Gene Transfer and Stem Cell Engineering
  • First Clinical Steps
  • Summary and recommendations
  • References
• 15. PSYCHOLOGICAL SUPPORT
  Robert C Yamashita, L Lauren Mednick, Dru Haines, and John Porter.
  • The Challenge of Psychological Support: What Does the Literature Tell Us?
  • Practical Considerations
  • Summary and Recommendations
  • References
• 16. LIFESTYLE AND QUALITY OF LIFE
  Michael Angastiniotis, Ali Taher, and Maria Domenica Cappellini.
  • Exercise and Participation in Sports
  • Education
  • Employment
  • Marriage and Reproductive Life
  • Nutrition
  • Supportive Treatments
  • Quality of Life
  • Summary and Recommendations
  • References
• 17. ORGANISATION AND PROGRAMMING OF THALASSAEMIA CARE
  Michael Angastiniotis, Androulla Eleftheriou, Maria Domenica Cappellini, and Ali Taher.
  • The Multidisciplinary Team
  • Programming of Treatment
  • Reference Centres
  • Networking of Centres
  • Summary and Recommendations
  • References
• GENERAL TIMETABLE FOR CLINICAL AND LABORATORY EVALUATION

“Cure sometimes, treat often, comfort always.”

Hippocrates (460-357 B.C.)

“The good physician treats the disease; the great physician treats the patient who has the disease.”

Sir William Osler (1849-1919)