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Here is a complete history of Thalassaemia, the most common type of genetic disorder in the human population, and one of the first whose genetic basis was established. Treatment is also discussed as well at an assessment of how molecular approaches are impacting medicine. - Publisher.--
Thalassaemia is the most common type of genetic disorder in the human population, and one of the first whose genetic basis was established. Written by Sir David Weatherall, an expert in molecular medicine and the founder of the Institute of Molecular Medicine in Oxford, this tells the story of early reports of the disease, historical accounts, the identification of the disease as having an inherited basis, early work on thalassaemia as a disorder of the synthesis of haemoglobin, and from the 1960s with the rise of molecular biology, the study of the condition at the DNA level. The commonality of the disease raised an important evolutionary question: if thalassaemia is a genetic disorder then why hasn't it been selected out? Why does it persist, especially in Mediterranean populations? The great geneticist JBS Haldane suggested a reason - that carriers might be more resistant to malaria. Now that we have much more detailed understanding of the molecular basis of this set of diseases, has Haldane proved to be right? Weatherall shows that Haldane turns out to have been partially right. The book ends with recent improvements in treatment that have transformed patients' lives and a general assessment of how molecular approaches are impacting on medicine. Thalassaemia: the biography is part of the Oxford series, Biographies of Disease, edited by William and Helen Bynum. In each individual volume an expert historian of medicine tells the story of a particular disease or condition throughout history - not only in terms of growing medical understanding of its nature and cure, but also shifting social and cultural attitudes, and changes in the meaning of the name of the disease itself.
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.
Cholera is a dangerous and frightening disease that can kill within hours. Chris Hamlin not only tells how the bacterial cause of cholera was discovered, but describes the experience of different countries, some of which continue to struggle with the disease today. Cholera is part of the Oxford series, Biographies of Diseases.
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.
If you ask people about their earliest memories, most will recall holidays and family parties. But for Arthur, many of his earliest memories include going with his parents to regular hospital visits and staying overnight for blood transfusions. These treatments have been a frequent part of his life since birth because he has beta-thalassemia major: a rare genetic disorder that reduces his body's ability to produce enough healthy red blood cells. When reaching adolescence, most teenagers want more freedom, independence and control in their lives. For Arthur, it was the opposite, as he discovered that his lifespan would only last up to adulthood. After becoming an adult, Arthur was waiting for his death. It was at the eleventh hour, at the age of twenty-one, when Arthur was introduced to a miracle treatment, but only after the damage of iron overload from all the blood transfusion was done to his body. Grateful to be given a chance to survive for a few more years, Arthur decided to do something with his life; to get married, buy a house and also to have children, knowing he had no prospect of any future for himself.
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.
Haematology Nursing is a comprehensive handbook, with a nursing focus, on the care and management of patients with haematological disorders. Divided into four sections, the first provides an introduction to haematology, looking at haemopoiesis, immunology and genetics. Section Two covers non-malignant haematology, including anaemia, haemoglobinopathies and haemochromatosis. Section Three explores the pathophysiology, care and management of myeloproliferative and lymphoproliferative disorders, including leukaemia, myeloma, and lymphoma. The final section provides information on various nursing care interventions, including blood transfusion, venous access devices, and palliative care. Aimed principally at nurses working in a variety of settings including haematology/oncology wards, medical/haematology wards, specialist bone marrow transplant centres, and community settings, Haematology Nursing is an essential and much-needed reference guide.
This volume is the newest release in the authoritative series issued by the National Academy of Sciences on dietary reference intakes (DRIs). This series provides recommended intakes, such as Recommended Dietary Allowances (RDAs), for use in planning nutritionally adequate diets for individuals based on age and gender. In addition, a new reference intake, the Tolerable Upper Intake Level (UL), has also been established to assist an individual in knowing how much is "too much" of a nutrient. Based on the Institute of Medicine's review of the scientific literature regarding dietary micronutrients, recommendations have been formulated regarding vitamins A and K, iron, iodine, chromium, copper, manganese, molybdenum, zinc, and other potentially beneficial trace elements such as boron to determine the roles, if any, they play in health. The book also: Reviews selected components of food that may influence the bioavailability of these compounds. Develops estimates of dietary intake of these compounds that are compatible with good nutrition throughout the life span and that may decrease risk of chronic disease where data indicate they play a role. Determines Tolerable Upper Intake levels for each nutrient reviewed where adequate scientific data are available in specific population subgroups. Identifies research needed to improve knowledge of the role of these micronutrients in human health. This book will be important to professionals in nutrition research and education.