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 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 Conference on Hemoglobin 2 3 May 1957 written by National Research The Division of Medical Sciences the National Heart Institute National Institutes of Health and published by National Academies. This book was released on 1958 with total page 338 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Thalassemia Syndromes written by Marwa Zakaria and published by BoD – Books on Demand. This book was released on 2023-11-22 with total page 244 pages. Available in PDF, EPUB and Kindle. Book excerpt: The thalassemia syndromes are a diverse group of hereditary anemias caused by decreased or absent production of one type of globin chain. Genetic counseling, prenatal diagnosis, and newborn screening are all issues of importance in these inherited disorders. This book provides a comprehensive overview of thalassemia, including information on its mechanisms and treatment modalities. Chapters elucidate the mechanism of disordered synthesis of hemoglobin in thalassemia and present recent studies of the genetic mechanisms that underlie this abnormal biosynthetic process.

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 The Obstetric Hematology Manual written by Sue Pavord and published by Cambridge University Press. This book was released on 2018-02-08 with total page 362 pages. Available in PDF, EPUB and Kindle. Book excerpt: Understand the rapidly growing complexities of obstetric hematology and high-risk pregnancy management, with experts in the field. Now in its second edition, this comprehensive and essential guide focuses on providing the best support for patients and clinical staff, to prevent serious complications in pregnancy and the post-partum period for both mother and baby. Wide-ranging and detailed, the guide offers discussions on basic principles of best care, through to tackling lesser-known hematological conditions, such as cytopenias and hemoglobinopathies. Updated with color illustrations, cutting-edge research, accurate blood film reproductions, and practical case studies, the revised edition places invaluable advice into everyday context. This unique resource is essential reading for trainees and practitioners in obstetrics, anesthesia, and hematology, as well as midwives, nurses, and laboratory staff. Clarifying difficult procedures for disease prevention, the guide ensures safety when the stakes are high. Reflecting current evidence-based guidelines, the updated volume is key to improving pregnancy outcomes worldwide.

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 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 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 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 Molecular Genetics of Thalassemia Syndromes written by Reena Das and published by . This book was released on 2016-08 with total page 57 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book reviews the molecular genetics of the thalassemia syndromes, inherited hemoglobin disorders that comprise the commonest monogenic disorders globally. Thalassemias are found in high frequencies in tropical regions corresponding to the malaria belt. Beta thalassemia traits show high HbA2 by HPLC, and [beta]-globin mutations (commonly point mutations) are detected by using ARMS-PCR, reverse dot-blot analysis and [beta]-globin gene sequencing. Globally>300 [beta] globin gene mutations exist, however regional mutations are limited to 5-6 common ones. Alpha globin gene defects can only be identified by molecular tests, the exception being HbH disease that shows "golf ball" appearance in HbH preparation, pre-integration peaks on HPLC and a fast-moving band on hemoglobin electrophoresis. Multiplex Gap-PCR identities common [alpha]-globin gene deletions. Specific PCR across the junction caused by the unequal crossing over can detect [alpha]-gene triplication. However, heterozygosity or homozygous triplication cannot be resolved by this technique. Non-deletional [alpha]-thalassemia can be characterized by specific [alpha]-globin gene sequencing. Identification of unusual deletions requires Multiplex Ligation-dependent Probe Amplification. In conclusion, the molecular characterization of human globin gene disorders is required to resolve the phenotypically heterogeneous thalassemia syndromes. Molecular analysis is also an important tool to prevent these disorders by offering prenatal screening in regions with a high disease burden.

Download or read book Cassidy and Allanson s Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

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 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 Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics

Download or read book Fast Facts Thalassemia Syndromes written by Ali T. Taher and published by Karger Medical and Scientific Publishers. This book was released on 2023-07-31 with total page 68 pages. Available in PDF, EPUB and Kindle. Book excerpt: 'Fast Facts: Thalassemia Syndromes' provides a concise, comprehensive introduction to the thalassemia syndromes and current approaches to treating them and their associated morbidities. It also offers an insight into some of the novel therapies that are currently in clinical trials or that have recently been approved, which have the potential to transform the lives of patients with thalassemia.

Download or read book Williams Hematology 9E written by Kenneth Kaushansky and published by McGraw Hill Professional. This book was released on 2015-12-23 with total page 2528 pages. Available in PDF, EPUB and Kindle. Book excerpt: Publisher's Note: Products purchased from Third Party sellers are not guaranteed by the publisher for quality, authenticity, or access to any online entitlements included with the product. The world's most highly regarded reference text on the mechanisms and clinical management of blood diseases A Doody's Core Title for 2020! Edition after edition, Williams Hematology has guided generations of clinicians, biomedical researchers, and trainees in many disciplines through the origins, pathophysiological mechanisms, and management of benign and malignant disorders of blood cells and coagulation proteins. It is acknowledged worldwide as the leading hematology resource, with editors who are internationally regarded for their research and clinical achievements and authors who are luminaries in their fields. The Ninth Edition of Williams Hematology is extensively revised to reflect the latest advancements in basic science, translational pathophysiology, and clinical practice. In addition to completely new chapters, it features a full-color presentation that includes 700 photographs, 300 of which are new to this edition, and 475 illustrations. Recognizing that blood and marrow cell morphology is at the heart of diagnostic hematology, informative color images of the relevant disease topics are conveniently integrated into each chapter, allowing easy access to illustrations of cell morphology important to diagnosis. Comprehensive in its depth and breath, this go-to textbook begins with the evaluation of the patient and progresses to the molecular and cellular underpinnings of normal and pathological hematology. Subsequent sections present disorders of the erythrocyte, granulocytes and monocytes, lymphocytes and plasma cells, malignant myeloid and lymphoid diseases, hemostasis and thrombosis, and transfusion medicine.