Preface vii Abbreviations and Glossary ix 1 Haemoglobin and the genetics of haemoglobin synthesis 1 2 Laboratory techniques for the identification of abnormalities of globin chain synthesis 33 3 α, β, δ and γ thalassaemias and related conditions 93 4 Sickle cell haemoglobin and its interactions with other variant haemoglobins and with thalassaemias 209 5 Other significant haemoglobinopathies 299 6 Acquired abnormalities of globin chain synthesis or haemoglobin structure 377 7 Organisation of a haemoglobinopathy diagnostic service 403 8 Self- assessment – test cases 423 Appendix: electronic resources 467 Index 471

"The detection and identification of variant haemoglobins and thalassaemias and the clinical presentation and significance of resultant disorders"-

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