Download or read book The Thalassaemia Syndromes written by David J. Weatherall and published by John Wiley & Sons. This book was released on 2008-04-30 with total page 864 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Thalassemia written by Makenzie Greene and published by Nova Science Publishers. This book was released on 2014 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Thalassemia is one of the most common genetic disorders worldwide and presents major public health and social challenges in areas of high incidence. The frequency of this disorder varies considerably with geographic locations and racial groups. Thalassemia refers to a group of inherited hemolytic anemia disorders that involve defects in the synthesis of hemoglobin α- or β-polypeptide chains. It leads to decreased hemoglobin production and hypochromic microcytic anemia associated with erythrocyte dysplasia and destruction. Homozygous β-thalassemia (also known as thalassemia major, Cooley's anemia, or Mediterranean anemia) is associated with the most severe signs and symptoms. Thalassemia major (TM) is a life-threatening condition that commonly manifests during early infancy, after which progressive pallor, severe anemia, and failure to thrive are common. Children with TM often develop feeding problems, recurrent fever, bleeding tendencies (especially epistaxis), susceptibility to infection, pathologic fractures of long bones and vertebrae, endocrine abnormalities, splenomegaly, lack of sexual maturation, and growth retardation. This book discusses cures and treatments available for thalassemia, as well as the causes and the type of long-term health outcomes it may cause.
Download or read book Prevention of Thalassaemias and Other Haemoglobin Disorders written by Galanello Renzo and published by . This book was released on 2003 with total page 190 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Thalassaemia The Biography written by David Weatherall and published by Oxford University Press. This book was released on 2010-08-26 with total page 258 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.--
Download or read book Thalassemia and Other Hemolytic Anemias written by Isam Jaber Al-Zwaini and published by BoD – Books on Demand. This book was released on 2018-07-11 with total page 140 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Disorders of Hemoglobin written by Martin H. Steinberg and published by Cambridge University Press. This book was released on 2009-08-17 with total page 883 pages. Available in PDF, EPUB and Kindle. Book excerpt: Completely revised new edition of the definitive reference on disorders of hemoglobin.
Download or read book Thalassemia written by Jude Kamal and published by Xlibris Corporation. This book was released on 2013-04-15 with total page 145 pages. Available in PDF, EPUB and Kindle. Book excerpt: Book Summary: Jude, a normal girl until the age of three, was diagnosed with Beta Thalassemia Major that taught her to live life with passion and to be grateful for all her blessings. During the same year of Judes diagnosis, her sister Sarah was diagnosed with the same genetic blood disorder, leaving both their parents heartbroken. Although Jude hated Thalassemia at times, blamed herself for all the struggles she faced, she made herself believe that enduring pain will make her stronger. Both sisters have kept Thalassemia a secret from their closest friends in order for them not to be treated differently. They were there for each other no matter what challenge they had facing them. It is a heartfelt and touching journey that unravels the unbroken sisterly bond, inner strength and the constant struggle that never seems to end.
Download or read book The Thalassemias written by D. J. Weatherall and published by . This book was released on 1983 with total page 186 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Pediatric Hematology written by Robert Wynn and published by Cambridge University Press. This book was released on 2017-02-16 with total page 299 pages. Available in PDF, EPUB and Kindle. Book excerpt: A succinct summary of the key principles and facts that guide the everyday practice of modern, clinical paediatric hematology. Covering all the information necessary for examinations in the topic, this book is ideal for postgraduates studying paediatric hematology, as well as for junior doctors in training.
Download or read book Red Cell Membranes written by Stephen Byron Shohet and published by . This book was released on 1988 with total page 352 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Atlas of X Linked Intellectual Disability Syndromes written by Roger E. Stevenson and published by Oxford University Press. This book was released on 2012-07-12 with total page 363 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Atlas of Intellectual Disability Syndromes presents a concise description of 150 clinically distinctive syndromes caused by genes on the X chromosome. Each entry includes photographs and a differential matrix of similar syndromes. Appendices identify syndromes with common features and provide the location or mapping limits and function of responsible genes.
Download or read book Inherited Hemoglobin Disorders written by Anjana Munshi and published by BoD – Books on Demand. This book was released on 2015-11-11 with total page 198 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book, Inherited Hemoglobin Disorders, describes the genetic defects of hemoglobins, disease complications, and therapeutic strategies. This book has two distinct sections. The first theme includes seven chapters devoted to the types of hemoglobinopathies, mutation spectrum, diagnostic methods, and disease complications, and the second theme includes three chapters focusing on various treatment strategies. The content of the chapters presented in the book is guided by the knowledge and experience of the contributing authors. This book serves as an important resource and review to the researchers in the field of hemoglobinopathies.
Download or read book Molecular Diagnostics written by Wayne W. Grody and published by Academic Press. This book was released on 2009-11-06 with total page 518 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in genomic and proteomic profiling of disease have transformed the field of molecular diagnostics, thus leading the way for a major revolution in clinical practice. While the range of tests for disease detection and staging is rapidly expanding, many physicians lack the knowledge required to determine which tests to order and how to interpret results. Molecular Diagnostics provides a complete guide to the use and interpretation of molecular testing in the clinical arena. No other available resource offers this emphasis, comprehensive scope, and practical utility in the clinical setting. - Serves as the definitivereference for molecular pathologists worldwide - Covers a variety of molecular techniques including next generation sequencing, tumor somatic cell genotyping, infectious and genetic disease tecting, and pharmacogenetics - Discusses in the detail issues concerning quality assurance, regulation, ethics, and future directions for the science
Download or read book Iron Chelation Therapy written by Chaim Hershko and published by Taylor & Francis US. This book was released on 2002 with total page 290 pages. Available in PDF, EPUB and Kindle. Book excerpt: Within the last few years, iron research has yielded exciting new insights into the understanding of normal iron homeostasis. Such development, and the evolution of improved strategies of Iron Chelating Therapy require better understanding of the pathophysiology of iron toxicity and the mechanism of action of iron chelating drugs. The timeliness of the present volume is underlined by several significant developments in recent years. New insights have been gained into the molecular basis of aberrant iron handling in hereditary disorders and the pathophysiology of iron overload. This volume highlights the impact of long term Iron Celating Therapy using deferoxamine or the new, but controversial oral iron chelator deferiprone based on experience gained by multicenter trails, with special emphasis on survival, morbidity and drug toxicity; it reviews the development of the new and improved orally effective chelators suitable for clinical use in the near future and examines novel strategies of iron chelating treatment for the control of cell proliferation in malignant disease or malaria.
Download or read book Essential Metals in Medicine Therapeutic Use and Toxicity of Metal Ions in the Clinic written by Peggy L. Carver and published by Walter de Gruyter GmbH & Co KG. This book was released on 2019-01-14 with total page 640 pages. Available in PDF, EPUB and Kindle. Book excerpt: Volume 19, entitled Essential Metals in Medicine: Therapeutic Use and Toxicity of Metal Ions in the Clinic of the series Metal Ions in Life Sciences centers on the role of metal ions in clinical medicine. Metal ions are tightly regulated in human health: while essential to life, they can be toxic as well. Following an introductory chapter briefly discussing several important metal-related drugs and diseases and a chapter about drug development, the focus is fi rst on iron: its essentiality for pathogens and humans as well as its toxicity. Chelation therapy is addressed in the context of thalassemia, its relationship to neurodegenerative diseases and also the risks connected with iron administration are pointed out. A subject of intense debate is the essentiality of chromium and vanadium. For example, chromium(III) compounds are taken as a nutritional supplement by athletes and bodybuilders; in contrast, chromate, Cr(VI), is toxic and a carcinogen for humans. The benefi cial and toxic effects of manganese, cobalt, and copper on humans are discussed. The need for antiparasitic agents is emphasized as well as the clinical aspects of metal-containing antidotes for cyanide poisoning. In addition to the essential and possibly essential ones, also other metal ions play important roles in human health, causing harm (like the metalloid arsenic, lead or cadmium) or being used in diagnosis or treatment of human diseases, like gadolinium, gallium, lithium, gold, silver or platinum. The impact of this vibrant research area on metals in the clinic is provided in 14 stimulating chapters, written by internationally recognized experts from the Americas, Europe and China, and is manifested by approximately 2000 references, and about 90 illustrations and tables. Essential Metals in Medicine: Therapeutic Use and Toxicity of Metal Ions in the Clinic is an essential resource for scientists working in the wide range from pharmacology, enzymology, material sciences, analytical, organic, and inorganic biochemistry all the way through to medicine ... not forgetting that it also provides excellent information for teaching.
Download or read book Thalassemia An Issue of Hematology Oncology Clinics of North America written by Ali Taher and published by Elsevier Health Sciences. This book was released on 2018-03-07 with total page 209 pages. Available in PDF, EPUB and Kindle. Book excerpt: This issue of Hematology/Oncology Clinics, edited by Dr. Ali Taher, focuses on Thalassemia. Topics include, but are not limited to, Molecular basis and genetic modifiers; Evolving spectrum of epidemiology; Clinical classification; Ineffective erythropoiesis, anemia and iron overload; Hypercoagulability and vascular disease; Clinical complications and their management; Transfusion and iron chelation therapy; Hematopoietic Stem Cell Transplantation in Thalassemia; Gene therapy and genome editing; Emerging therapies; Quality of life; Advances in understanding pathophysiology and treatment of fertility, pregnancy, and prenatal diagnosis in Thalassemia; and MRI for iron overload.
Download or read book The Ethics of Genetic Screening written by Ruth F. Chadwick and published by Springer Science & Business Media. This book was released on 1999-03-31 with total page 278 pages. Available in PDF, EPUB and Kindle. Book excerpt: This collection of essays represents the work produced in the course of a three-year project funded by the Commission of the European Communities under the Biomed I programme, on the ethics of genetic screening, entitled 'Genetic screening: ethical and philosophical perspectives, with special reference to multifactorial diseases'. The short title of the project was Euroscreen, thereafter known as Euroscreen I, in the light of the fact that a second project on genetic screening was subsequently funded. The project was multinational and multidisciplinary, and had as its objectives to examine the nature and extent of genetic screening programmes in different European countries; to analyse the social policy response to these developments in different countries; and to explore the applicability of normative ethical frameworks to the issues. The project was led by a core group who had oversight of the project and members of which have acted as editors for this volume. Darren Shickle edited the first section; Henk ten Have the second; Ruth Chadwick and Urban Wiesing the third and final part. The volume opens with an overview of genetic screening and the principles available for addressing developments in the field, with special reference to the Wilson and Jungner principles on screening. The first of the three major sections thereafter includes papers on the state of the art in different countries, together with some analysis of social context and policy.