Guidelines for the management of α-Thalassaemia / edited by Ali Amid [and three others].

Format:

Book

Contributor:

Amid, Ali, editor.

Language:

English

Subjects (All):

Thalassaemia.

Thalassemia--Diagnosis.

Thalassemia.

Physical Description:

1 online resource

Place of Publication:

Nicosia, Cyprus : Thalassaemia International Federation, 2023.

Summary:

α-Thalassaemia is a complex genetic and hereditary haemoglobinopathy characterized by a wide range of clinical presentations and as such poses significant challenges in its timely and accurate diagnosis, treatment, and patient management. Quite often, individuals with α-thalassaemia, based on their early years' milder clinical manifestations and absence or very confined awareness regarding their haemoglobin disorder, remain undiagnosed and very randomly monitored, if at all, and reach out to clinical centres and haematologists at rather advanced stages of medical complications. This is an invaluable contribution to the efforts of healthcare professionals to upgrade patient care of individuals with the so-called Non-Transfusion Dependent α-Thalassaemia. Despite the huge advances in the molecular and genetic understanding of this syndrome leading to improvements in early diagnosis, the value of systematic follow-up and prompt management of developed complications has been severely underestimated for decades to-date. In the absence of registries, particularly those that include the incidence of α-thalassaemia and its contribution to the national and international disease burden, quality of life and social integration of patients is still largely unknown.

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.

Genetic basis of deletional HbH disease

Clinical presentations and complications of deletional HbH disease

Management of deletional HbH disease

3. CLINICAL PRESENTATION AND MANAGEMENT OF NON-DELETIONAL HBH DISEASE

Duantida Songdej and Nattiya Teawtrakul.

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

4. PRENATAL MANAGEMENT OF HAEMOGLOBIN BART'S HYDROPS FOETALIS

Billie R. Lianoglou, Roberta L. Keller, and Juan Gonzalez-Velez.

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

5. LONG-TERM MANAGEMENT OF α-THALASSAEMIA MAJOR (HEMOGLOBIN BART'S HYDROPS FOETALIS)

Ali Amid, Ashutosh Lal, and Elliott P Vichinsky.

Transfusion for patients with α-thalassaemia major

Iron overload and chelation

Other issues

Haematopoietic stem cell transplant

6. FERTILITY AND PREGNANCY IN α-THALASSAEMIA

Tachjaree Panchalee Boonbowornpong and Pornpimol Ruangvutilert.

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

7. INFECTIONS AND HAEMOGLOBIN H DISEASE

Duantida Songdej and Suthat Fucharoen.

Disease-related infectious issues

Therapy-related infectious issues

8. LIVER DISEASE IN α-THALASSAEMIA

Luke KL Chan.

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

9. BLOOD TRANSFUSION

Ali Amid and Melanie Kirby-Allen.

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

10. SPLENOMEGALY AND SPLENECTOMY

Ali Amid and Hayley Merkeley.

Splenectomy for HbH disease

Splenectomy for haemoglobin Bart's hydrops foetalis (α-thalassaemia major)

Methods of splenectomy

Summary of recommendations

11. IRON OVERLOAD AND IRON CHELATION IN α-THALASSAEMIA

Christopher C. Denton and Thomas D. Coates.

Thalassaemia and ineffective erythropoiesis

Iron toxicity and role of Fe2+

α-Thalassaemia and iron overload

Clinical measurement and management of iron overload

12. CURATIVE THERAPIES FOR α-THALASSAEMIA

Enass H. Raffa and Kuang-Yueh Chiang.

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

13. NOVEL AND EMERGING THERAPIES FOR α-THALASSAEMIA

Antonis Kattamis.

Disease modifying therapies

Iron chelation medications

Gene therapy

Brief summary and recommendations

14. PREVENTION AND CONTROL OF α-THALASSAEMIA DISEASES

Pimlak Charoenkwan and Theera Tongsong.

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

15. GENETIC COUNSELLING FOR FAMILIES AT RISK FOR α-THALASSAEMIA

Billie R. Lianoglou.

16. PATIENT CENTRED MULTIDISCIPLINARY CARE IN Α-THALASSAEMIA

Michael Angastiniotis and Androulla Eleftheriou.

HbH disease

Hb Bart's hydrops foetalis

ABOUT THE THALASSAEMIA INTERNATIONAL FEDERATION (TIF)

Summary and recommendations.

Notes:

Description based on publisher supplied metadata and other sources.