Haemoglobinopathy Diagnosis

Preface 

Abbreviations and Glossary

1 Haemoglobin and the genetics of haemoglobin synthesis

2 Laboratory techniques for the identification of abnormalities of globin chain synthesis 

3 α, β, δ and γ thalassaemias and related conditions

4 Sickle cell haemoglobin and its interactions with other variant haemoglobins and with thalassaemias

5 Other significant haemoglobinopathies 

6 Acquired abnormalities of globin chain synthesis or haemoglobin structure 

7 Organisation of a haemoglobinopathy diagnostic service 

8 Self- assessment – test cases 

Appendix: electronic resources

Index 

Compact, clearly written, and well-illustrated resource for the laboratory diagnosis of haemoglobin disorders and for understanding the clinical significance of these disorders

Designed as a practical resource and written in a concise and approachable format, Haemoglobinopathy Diagnosis offers a comprehensive review of the practical information needed for an understanding of the laboratory diagnosis of haemoglobin disorders. This revised and updated fourth edition covers the most recent advances in the field with new material on antenatal screening/prenatal diagnostic services, including illustrative examples and helpful questions to aid in information retention, and offers a myriad of self-assessment case studies that are ideal for the trainee.

Written by two leading haematologists, the text is set in a clinical context and focuses on the selection, performance, and interpretation of the tests that are offered by the majority of diagnostic laboratories.

Haemoglobinopathy Diagnosis discusses topics including:

• Genetics of haemoglobin synthesis and laboratory techniques for the identification of abnormalities of globin chain synthesis
• Thalassaemias and related conditions, and sickle cell haemoglobin and its interactions with thalassaemias with other variant haemoglobins
• Acquired abnormalities of globin chain synthesis or haemoglobin structure and organization of a haemoglobinopathy diagnostic service
• Situations when more specialist tests are required and what specialist referral centres will help to accomplish

Written for trainees in haematology, practicing haematologists, laboratory scientists, and professionals in the pharmaceutical and diagnostics industries, the Fourth Edition of Haemoglobinopathy Diagnosis is an essential reference and learning tool that provides a clear basis for understanding the diagnosis of haemoglobin disorders.

Barbara J. Bain, Professor of Diagnostic Haematology, Imperial College London and Honorary Consultant Haematologist, Imperial College Healthcare NHS trust, St Mary’s Hospital, London, UK.

David C. Rees, Professor of Paediatric Haematology and Consultant in Paediatric Haematology, Department of Haematological Medicine, King’s College London, King’s College Hospital, Denmark Hill, London, UK.