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Cover of Prevention of Thalassaemias and Other Haemoglobin Disorders

Prevention of Thalassaemias and Other Haemoglobin Disorders, 2nd edition

Volume 2: Laboratory Protocols

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Author Information

,1 ,2 ,3 ,4 ,5 and 6.

1 Consultant Clinical Scientist and Honorary Reader in Haematology (Oxford University), National Haemoglobinopathy Reference Laboratory, Molecular Haematology, L4, John Radcliffe Hospital, Oxford, OX3 9DU, UK. Email: ku.shn.huo@dlo.nhoj
2 Assistant Professor of Genetics, Dept of Clinical Genetics, Leiden University Medical Center, Einthovenweg 20, 2333ZC Leiden, The Netherlands. Email: ln.cmul@dlevetraH.L.C
3 Assistant Professor of Genetics, Department of Medical Genetics, University of Athens, Choremeio Research Laboratory, St. Sophia's Children's Hospital, Athens 11527, Greece. Email: rg.aou.dem@regeartj
4 Consultant Clinical Molecular Geneticist and Honorary Senior Lecturer (University College London), Haemoglobinopathy Genetics Centre, University College London Hospitals NHS Foundation Trust, 86-96 Chenies Mews, London WC1 E6HX, UK and UCL Institute of Women's Health and UCL Centre for Health Informatics and Multiprofessional Education (CHIME). Email: ku.ca.lcu@uortep.m
5 TIF Medical Advisor, Thalassaemia International Federation, PO Box 28807, 2083 Nicosia, Cyprus. Email: yc.gro.aimeassalaht@sitoinitsagna.leahcim
6 Head of Paediatric Thalassaemia Centre, Ospedale Regionale Microitemie, Via Jenner (sn), 09121 Cagliari, Italy. Email: ti.acinu.bewcm@ollenalag.ozner
Nicosia, Cyprus: Thalassaemia International Federation; .
ISBN-13: 978-9963-717-01-9

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.

All rights reserved. The publication contains the collective views of an international group of experts and does not necessarily represent the decisions or the stated policy of the Thalassaemia International Federation.

Bookshelf ID: NBK190576PMID: 24672828
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