Volume 1 of the Prevention Book presents the principles of a programme for the prevention of the thalassaemia and other haemoglobin disorders, including a description of the various types of disorders requiring prenatal diagnosis, the strategies used for carrier screening, and a number of annexes listing upto date epidemiological and mutation data on thalassaemia. This book was written for use in combination with Volume 2, which describes many of the laboratory protocols in great detail.

In the new edition of this successful and authoritative book, the thalassaemias are reviewed in detail with respect to their clinical features, cellular pathology, molecular genetics, prevention and treatment. It is aimed at specialists in haematology in the laboratory or clinical setting, particularly in areas where thalassaemia is common either in the native population or in immigrant communities. The fourth edition has been both updated and re-organized. Three new chapters have been added on the link between alpha-thalassaemia and mental retardation, on avoidance and population control and on global epidemiology. Considerable emphasis is placed on molecular pathology reflecting the huge burst of information to have come out of this field in the last few years.

Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies is a Special Issue of the International Journal of Neonatal Screening. Sickle cell disease is one of the most common inherited blood disorders, with a huge impact on health care systems due to high morbidity and high mortality associated with the undiagnosed disease. Newborn screening helps to make the diagnosis early and to prevent fatal complications and diagnostic odysseys. This book gives an overview of diagnostic standards in newborn screening for sickle cell disease and examples of existing newborn screening programs.

Completely revised new edition of the definitive reference on disorders of hemoglobin.

An updated, essential guide for the laboratory diagnosis of haemoglobin disorders This revised and updated third edition of Haemoglobinopathy Diagnosis offers a comprehensive review of the practical information needed for an understanding of the laboratory diagnosis of haemoglobin disorders. Written in a concise and approachable format, the book includes an overview of clinical and laboratory features of these disorders. The author focuses on the selection, performance, and interpretation of the tests that are offered by the majority of diagnostic laboratories. The book also explains when more specialist tests are required and explores what specialist referral centres will accomplish. The information on diagnosis is set in a clinical context. The third edition is written by a leading haematologist with a reputation for educational excellence. Designed as a practical resource, the book is filled with illustrative examples and helpful questions that can aide in the retention of the material presented. Additionally, the author includes information on the most recent advances in the field. This important text: • Contains a practical, highly illustrated, approach to the laboratory diagnosis of haemoglobin disorders • Includes “test-yourself” questions and provides an indispensable tool for learning and teaching • Presents new material on antenatal screening/prenatal diagnostic services • Offers myriad self-assessment case studies that are ideal for the trainee Written for trainees and residents in haematology, practicing haematologists, and laboratory scientists, Haemoglobinopathy Diagnosis is an essential reference and learning tool that provides a clear basis for understanding the diagnosis of haemoglobin disorders.

Thalassemia is a very common disease first described by pediatrician Thomas Benton Cooley in 1925 who described it in a patient of Italian origin. At that time, it was designated as Cooley's anemia. George Hoyt Whipple, a Nobel prize winner, and W. L. Bradford, a professor of pediatrics at the University of Rochester, coined the term thalassemia in 1936, which in Greek means anemia of the sea (Thalassa means "sea", and emia means "blood"), due to the fact that it is very common in the area of the Mediterranean Sea. This name is actually misleading because it can occur everywhere in the world. Thalassemia is not a single disease; it is rather a group of hereditary disorders of the production of globulin chain of the hemoglobin. Throughout the world, thalassemia affects approximately 4.4 of every 10,000 live births. It represents a major social and emotional impact on the patient and his family and a major burden on health services where the prevalence is high.

Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.