Guidelines for the management of non-transfusion-dependent β-Thalassaemia / Ali T. Taher, Khaled M. Musallam, Maria Domenica Cappellini.

Format:

Book

Author/Creator:

Taher, Ali T., author.

Musallam, Khaled M., author.

Cappellini, Maria Domenica, author.

Language:

English

Subjects (All):

Thalassaemia.

Thalassemia--Diagnosis.

Thalassemia.

Physical Description:

1 online resource

Edition:

Third edition.

Place of Publication:

Nicosia, Cyprus : Thalassaemia International Federation, 2023.

Summary:

The thalassaemias are inherited haemoglobin disorders characterized by defective synthesis of the α-globin (α-thalassaemia) or β-globin (β-thalassaemia) chains of adult haemoglobin A. A variety of β-thalassaemia phenotypes can result from heterozygous, compound heterozygous, or homozygous inheritance of β-globin gene mutations, or their co-inheritance with structural haemoglobin variants such as haemoglobin E or other secondary genetic modifiers [1-5]. Transfusion-dependence has recently become an essential factor in classifying the various phenotypes of β-thalassaemia. Patients requiring lifelong regular transfusion therapy for survival are considered as having transfusion-dependent β-thalassaemia (TDT), such as patients with β-thalassaemia major or sever haemoglobin E/β-thalassaemia. On the other hand, non-transfusion-dependent β-thalassaemia (NTDT) - the focus of these guidelines - is the term used for patients who do not require lifelong regular transfusions for survival, such as patients with β-thalassaemia intermedia or mild-moderate haemoglobin E/β-thalassaemia. It should be stressed, however, that transfusion receipt is not always a measure of underlying disease severity but can also be attributed to access to blood products or reflect a physician or patient choice, with varying practices worldwide especially in patients with moderate phenotypes. In recent clinical trials, the use of the NTDT/TDT classification has commonly been associated with the patient's transfusion profile in the past six months (e.g., <6 red blood cell units denoting NTDT). This may be practical when taking immediate management decisions especially as relates to anaemia and iron overload. However, the natural course of a patient's disease course should always be taken into consideration since many patients with NTDT go on to become TDT following permanent morbidity development while also some patients with TDT can become NTDT following interventions that decrease transfusion requirement.

Contents:

FOREWORD

1. INTRODUCTION

EPIDEMIOLOGY OF NTDT

GENOTYPE-PHENOTYPE ASSOCIATIONS IN NTDT

SCREENING AND LABORATORY DIAGNOSIS OF NTDT

SURVIVAL IN NTDT

REFERENCES

2. INEFFECTIVE ERYTHROPIESIS AND ANAEMIA

MANAGEMENT OF INEFFECTIVE ERYTHROPIESIS AND ANAEMIA

3. IRON OVERLOAD

ASSESSMENT OF IRON OVERLOAD IN NTDT

MANAGEMENT OF IRON OVERLOAD IN NTDT

4. HYPERCOAGULABLITY AND THROMBOTIC DISEASE

CLINICAL THROMBOSIS IN NTDT

CEREBROVASCULAR DISEASE IN NTDT

PREVENTIVE STRATEGIES

5. PULMONARY HYPERTENSION

ETIOLOGY AND RISK FACTORS FOR PULMONARY HYPERTENSION IN NTDT

PREVENTION AND MANAGEMENT

6. LIVER DISEASE

7. ENDOCRINE AND BONE DISEASE

8. PREGNANCY

9. EXTRAMEDULLARY HAEMATOPOIESIS

DIAGNOSIS OF PARASPINAL INVOLVEMENT

THE ROLE OF INTERVENTION

10. LEG ULCERS

11. QUALITY OF LIFE

12. THE VALUE OF PATIENTS' ENGAGEMENT

HOW ENGAGING PATIENTS CAN BE OF BENEFIT

THE KEY ...

THE PATH FORWARD

13. MULTIDISCIPLINARY CARE & REFERENCE CENTRES IN ADDRESSING HAEMOGLOBIN DISORDERS

REFERENCE/EXPERT CENTRES FOR HAEMOGLOBIN DISORDERS

ABOUT THE THALASSAEMIA INTERNATIONAL FEDERATION (TIF)

A COMPREHENSIVE EDUCATIONAL PROGRAMME

EDUCATIONAL RESOURCES

TIF PUBLICATIONS

HEALTH CARE PROFESSIONALS

PATIENTS.

Notes:

Description based on publisher supplied metadata and other sources.