Guidelines for the Management of α-Thalassaemia

Contents

• AUTHORS
• FOREWORD
• [Epigraph]
• 1. EPIDEMIOLOGY, PATHOPHYSIOLOGY AND DIAGNOSIS OF α-THALASSAEMIA
  Christiana Makariou, Thessalia Papasavva, and Marina Kleanthous.
  • Introduction
  • Epidemiology and global burden of α-thalassaemias
  • Genetic basis of α-thalassaemias
  • Classification of α-thalassaemia
  • Laboratory and genetic diagnosis of α-thalassaemias
  • Summary and recommendations
  • References
• 2. CLINICAL PRESENTATION AND MANAGEMENT OF DELETIONAL HAEMOGLOBIN H DISEASE
  Ashutosh Lal.
  • Introduction
  • Genetic basis of deletional HbH disease
  • Clinical presentations and complications of deletional HbH disease
  • Management of deletional HbH disease
  • Summary and recommendations
  • References
• 3. CLINICAL PRESENTATION AND MANAGEMENT OF NON-DELETIONAL HBH DISEASE
  Duantida Songdej and Nattiya Teawtrakul.
  • Introduction
  • General clinical presentation of non-deletional HbH disease
  • Uncommon non-deletional HbH diseases
  • Management of non-deletional HbH disease during childhood
  • Management of adult patients with non-deletional HbH disease
  • Complications in non-deletional HbH diseases
  • Special forms of non-deletional α-thalassaemia
  • Summary and recommendations
  • References
• 4. PRENATAL MANAGEMENT OF HAEMOGLOBIN BART’S HYDROPS FOETALIS
  Billie R. Lianoglou, Roberta L. Keller, and Juan Gonzalez-Velez.
  • Introduction
  • Diagnosis
  • Decision making process
  • Prenatal management
  • Delivery considerations
  • Postnatal care
  • Hydrops foetalis due to rare forms of non-deletional haemoglobin H disease or homozygosity for mutational α⁺-thalasssaemia
  • Summary and recommendations
  • References
• 5. LONG-TERM MANAGEMENT OF α-THALASSAEMIA MAJOR (HEMOGLOBIN BART’S HYDROPS FOETALIS)
  Ali Amid, Ashutosh Lal, and Elliott P Vichinsky.
  • Introduction
  • Transfusion for patients with α-thalassaemia major
  • Iron overload and chelation
  • Other issues
  • Haematopoietic stem cell transplant
  • Summary and recommendations
  • References
• 6. FERTILITY AND PREGNANCY IN α-THALASSAEMIA
  Tachjaree Panchalee Boonbowornpong and Pornpimol Ruangvutilert.
  • Introduction
  • HbH disease and fertility
  • Pregnancy outcomes and transfusion during pregnancy in HbH disease
  • Preimplantation genetic diagnosis
  • Preimplantation genetic diagnosis for HbH disease
  • Pregnancy and fertility in α-thalassaemia major
  • Pregnancy in individuals with α-thalassaemia trait
  • Summary and recommendations
  • References
• 7. INFECTIONS AND HAEMOGLOBIN H DISEASE
  Duantida Songdej and Suthat Fucharoen.
  • Introduction
  • Disease-related infectious issues
  • Therapy-related infectious issues
  • Summary and recommendations
  • References
• 8. LIVER DISEASE IN α-THALASSAEMIA
  Luke KL Chan.
  • Introduction
  • Prevalence and burden of liver disease in HbH disease
  • Pathophysiology of liver disease in HbH disease
  • Diagnosis and treatment of liver disease in HbH disease
  • Summary
  • Recommendations
  • References
• 9. BLOOD TRANSFUSION
  Ali Amid and Melanie Kirby-Allen.
  • Introduction
  • Aims of blood transfusion in HbH disease and haemoglobin Bart’s hydrops foetalis syndrome (α-thalassaemia major)
  • When to start regular transfusions?
  • Haemovigilance and blood conservation
  • Recommendations
  • References
• 10. SPLENOMEGALY AND SPLENECTOMY
  Ali Amid and Hayley Merkeley.
  • Introduction
  • Splenectomy for HbH disease
  • Splenectomy for haemoglobin Bart’s hydrops foetalis (α-thalassaemia major)
  • Methods of splenectomy
  • Summary of recommendations
  • References
• 11. IRON OVERLOAD AND IRON CHELATION IN α-THALASSAEMIA
  Christopher C. Denton and Thomas D. Coates.
  • Introduction
  • Thalassaemia and ineffective erythropoiesis
  • Iron toxicity and role of Fe²⁺
  • α-Thalassaemia and iron overload
  • Clinical measurement and management of iron overload
  • Summary and recommendations
  • References
• 12. CURATIVE THERAPIES FOR α-THALASSAEMIA
  Enass H. Raffa and Kuang-Yueh Chiang.
  • Introduction
  • Allogeneic haematopoietic stem cell transplantation
  • Risk allocation
  • Outcomes of allogeneic HSCT in transfusion-dependent β-thalassaemia
  • Alternative donors and conditioning regimens
  • GVHD prophylaxis
  • Transplant in α-thalassaemia
  • Mixed chimera
  • Long-term follow-up after HSCT
  • Conclusion
  • Summary and recommendations
  • References
• 13. NOVEL AND EMERGING THERAPIES FOR α-THALASSAEMIA
  Antonis Kattamis.
  • Disease modifying therapies
  • Iron chelation medications
  • Gene therapy
  • Brief summary and recommendations
  • References
• 14. PREVENTION AND CONTROL OF α-THALASSAEMIA DISEASES
  Pimlak Charoenkwan and Theera Tongsong.
  • Introduction
  • Haemoglobin Bart’s hydrops foetalis
  • Prenatal screening for carriers of α⁰-thalassaemia
  • DNA-based method for identification of α-thalassaemia
  • Couples at risk of foetal Hb Bart’s hydrops foetalis
  • Other consideration: noninvasive prenatal testing of Hb Bart’s hydrops foetalis by analysis of cell-free foetal DNA
  • HbH hydrops foetalis
  • Hydrops foetalis due to homozygous Hb Constant Spring mutation or other rare non-deletional α-thalassaemia mutations
  • Summary and recommendations
  • References
• 15. GENETIC COUNSELLING FOR FAMILIES AT RISK FOR α-THALASSAEMIA
  Billie R. Lianoglou.
  • Summary and recommendations
  • References
• 16. PATIENT CENTRED MULTIDISCIPLINARY CARE IN Α-THALASSAEMIA
  Michael Angastiniotis and Androulla Eleftheriou.
  • HbH disease
  • Hb Bart’s hydrops foetalis
  • References
• ABOUT THE THALASSAEMIA INTERNATIONAL FEDERATION (TIF)
• Summary and recommendations