Volume 2 of the Prevention Book presents the major technical procedures that are useful for the laboratory diagnosis of the thalassaemias and abnormal haemoglobin disorders. This book was written for use in combination with Volume 1, in which the various types of disorders requiring prenatal diagnosis and the strategies used for carrier screening are described. Most of the protocols described here are in current use in the authors’ and contributors’ laboratories. However it was not possible to include details of every known practical method for screening and mutation detection, and similarly it is not possible for a laboratory to develop expertise in the application of every method. Thus to guide laboratories in deciding which techniques to use or develop, the first chapter of this book concentrates on the best practice in carrier screening and molecular analysis. This is followed by five chapters that describe detailed protocols and technical tips not only for the classic procedures used for the prevention of thalassaemia, but also for some of the more advanced and specialized techniques that a diagnostic centre might consider to introduce into service. The final chapter highlights some of the emerging technologies that are being developed, such as the use of gene-chips or microarrays and next generation sequencing.
© 2012 Thalassaemia International Federation.