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 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 Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies written by Stephan Lobitz and published by MDPI. This book was released on 2019-10-07 with total page 160 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book The Haemoglobinopathies written by David John Weatherall and published by . This book was released on 1993 with total page 331 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Hemoglobin Disorders written by Ronald L. Nagel and published by Springer Science & Business Media. This book was released on 2008-02-01 with total page 311 pages. Available in PDF, EPUB and Kindle. Book excerpt: Hemoglobin and Hemoglobinologists This volume, Hemoglobin Disorders: Molecular Methods and Protocols, will be introduced with a review of the great milestones in the field, and the scientists responsible for those achievements. The history of hemoglobin can be divided into three periods: the Classical period, the Modern period, and the Post-Modern period. I am inclined to include as the four major members of the classical period Francis Roughton, Quentin Gibson, Jeffries Wyman, and Linus Pauling, not only because of their achievements, but also because of the superb scientists they trained and/or influenced. Francis John Worsely Roughton (1899–1972) (Fig. 1), in his laboratory at Trinity College in Cambridge, England, made the first measurements of the rapid reaction of oxygen with hemoglobin at the millisecond scale, at first by flow-mixing methods and later by flash photolysis. He not only opened an era of molecular research of hemoglobin, but also invented the methodology for fast reactions through the use of laser technology, which was later improved by others so that even faster reactions could be detected. Another contribution of Roughton was the education of Quentin H. Gibson (Fig. 2), his favorite s- dent, who, in his laboratory in Sheffield, continued to expand the horizon of ligand binding to hemoglobin, defining the oxygen binding constants for each of the hemes of hemoglobin. Though this did not, as expected, solve the und- lying mechanism of ligand cooperativity as discussed below, it was nonet- less an important milestone.
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 Guidelines for the Clinical Management of Thalassaemia written by Maria-Domenica Cappellini and published by . This book was released on 2008 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Prevention of Thalassaemias and Other Haemoglobin Disorders written by and published by . This book was released on 2005 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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 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 Neonatal Hematology written by Pedro A. de Alarcón and published by Cambridge University Press. This book was released on 2021-02-18 with total page 501 pages. Available in PDF, EPUB and Kindle. Book excerpt: An essential guide to the pathogenesis, diagnosis and management of hematologic problems in the neonate, covering erythrocyte disorders, leukocyte disorders, immunologic disorders and hemostatic disorders. Guidance is practical, including blood test interpretation, advice on transfusions and reference ranges for hematological values.
Download or read book Gene and Cell Therapies for Beta Globinopathies written by Punam Malik and published by Springer. This book was released on 2017-11-09 with total page 248 pages. Available in PDF, EPUB and Kindle. Book excerpt: Hemoglobin defects, specifically sickle cell disease & thalassemia, combined, constitute the most common monogenic disorders in the world. In fact, nearly 2% of the world’s population carries a globin gene mutation. The transfer of the corrective globin gene through the HSC compartment by allogeneic HSC transplantation (HSCT) has already proven curative in both SCD and thalassemia patients, and provides the proof of concept that genetic manipulation of the defective organ might be equally therapeutic. However, procedural toxicities and the requirement of an HLA-matched sibling donor limit this approach to a fraction of affected individuals. The editors review the progress & the state of the field in HSCT for hemoglobinopathies & shed light on the major changes expected in the next decade. Although allogeneic HSCT is a curative option, it is limited by the availability of matched donors, which are often available only to 15-20% of patients. An alternative to allogeneic HS CT is genetic correction of autologous HSCs, to overcome donor availability & immune side effects. This Book reviews the progress made on additive gene therapy approaches & the current state of the field. Finally, targeted genetic correction is emerging as a novel therapeutic strategy in the hemoglobinopathies. Although ideal, the inefficiency of targeted correction was rate limiting for translation of this technology to the clinic. With advancements in zinc finger nucleases and TALE endonuclease mediated targeted correction, correction frequencies in hematopoietic stem cells is now reaching levels that may become clinically relevant. Furthermore, the ability to generate autologous embryonic stem cell like cells from primary somatic cells (skin fibroblasts or hematopoietic cells) of the affected individual has allowed for the potential application of genetic correction strategies.This Book reviews upcoming genetic strategies to reactivate fetal hemoglobin production and research advances.
Download or read book Variant Haemoglobins written by Barbara J. Bain and published by John Wiley & Sons. This book was released on 2011-06-28 with total page 548 pages. Available in PDF, EPUB and Kindle. Book excerpt: Variant Haemoglobins – A Guide to Identification is based on the premise that any single diagnostic technique offers only a very provisional identification of a variant haemoglobin. In routine diagnostic practice two techniques are needed as a minimum, with the results being interpreted in the light of the clinical details, blood count, blood film and ethnic origin. This book covers 150 normal and variant haemoglobins that have been studied and carefully documented. Variant Haemoglobins has four introductory chapters followed by an invaluable atlas. The introductory chapters cover the genetics of haemoglobin synthesis the principles of tests employed for identification common haemoglobins of major clinical or diagnostic importance thalassaemias and related conditions The atlas section comprises 170 full colour pages in which each variant haemoglobin or combination of haemoglobins is illustrated by cellulose acetate electrophoresis at alkaline pH, agarose gel electrophoresis at acid pH, isoelectric focusing and one or more HPLC traces. For ease of reference, the atlas pages are arranged according to the retention time of each haemoglobin on HPLC, this becoming increasingly the primary technique employed in haemoglobin identification. Bringing a mix of necessary scientific expertise and clinical knowledge, each author has more than 30 years experience in the diagnosis of variant haemoglobins. Providing otherwise unavailable information, this unique and practical guide is illustrated with over 700 high quality colour digital images plus flow charts and line diagrams covers common and important haemoglobin variants, in addition to many rarer ones is an essential reference source for diagnosis in the haematology laboratory A remarkably useful book, Variant Haemoglobins will be valuable for haematopathologists, clinical and laboratory haematologists in practice and in training and all laboratory staff involved in haemoglobinopathy diagnosis.
Download or read book 6th International Conference on the Development of Biomedical Engineering in Vietnam BME6 written by Toi Vo Van and published by Springer. This book was released on 2017-09-21 with total page 945 pages. Available in PDF, EPUB and Kindle. Book excerpt: Under the motto “Healthcare Technology for Developing Countries” this book publishes many topics which are crucial for the health care systems in upcoming countries. The topics include Cyber Medical Systems Medical Instrumentation Nanomedicine and Drug Delivery Systems Public Health Entrepreneurship This proceedings volume offers the scientific results of the 6th International Conference on the Development of Biomedical Engineering in Vietnam, held in June 2016 at Ho Chi Minh City.
Download or read book Iron Chelation Therapy written by Chaim Hershko and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 275 pages. Available in PDF, EPUB and Kindle. Book excerpt: Within the last few years, iron research has yielded exciting new insights into the under standing of normal iron homeostasis. However, normal iron physiology offers little protec tion from the toxic effects of pathological iron accumulation, because nature did not equip us with effective mechanisms of iron excretion. Excess iron may be effectively removed by phlebotomy in hereditary hemochromatosis, but this method cannot be applied to chronic anemias associated with iron overload. In these diseases, iron chelating therapy is the only method available for preventing early death caused mainly by myocardial and hepatic iron toxicity. Iron chelating therapy has changed the quality of life and life expectancy of thalassemic patients. However, the high cost and rigorous requirements of deferoxamine therapy, and the significant toxicity of deferiprone underline the need for the continued development of new and improved orally effective iron chelators. 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 develop ments 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 (Chapters 1-5).
Download or read book Textbook of Clinical Pediatrics written by H. A. Harfi and published by Springer Science & Business Media. This book was released on 2012-01-10 with total page 4213 pages. Available in PDF, EPUB and Kindle. Book excerpt: The new edition of this classic reference offers a problem-based approach to pediatric diseases. It encompasses almost all pediatric subspecialties and covers every pediatric disease and organ system. It includes case studies and over 750 lavish illustrations.
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:
