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 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 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 The EBMT Handbook written by Nicolaus Kröger and published by . This book was released on 2020-10-08 with total page 688 pages. Available in PDF, EPUB and Kindle. Book excerpt: This Open Access edition of the European Society for Blood and Marrow Transplantation (EBMT) handbook addresses the latest developments and innovations in hematopoietic stem cell transplantation and cellular therapy. Consisting of 93 chapters, it has been written by 175 leading experts in the field. Discussing all types of stem cell and bone marrow transplantation, including haplo-identical stem cell and cord blood transplantation, it also covers the indications for transplantation, the management of early and late complications as well as the new and rapidly evolving field of cellular therapies. This book provides an unparalleled description of current practices to enhance readers' knowledge and practice skills. This work was published by Saint Philip Street Press pursuant to a Creative Commons license permitting commercial use. All rights not granted by the work's license are retained by the author or authors.

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 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 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 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 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 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 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 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 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 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 Molecular Genetics of Thalassemia Syndromes written by Reena Das and published by Biota Publishing. This book was released on 2016-08-01 with total page 58 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 β-globin mutations (commonly point mutations) are detected by using ARMS-PCR, reverse dot-blot analysis and β-globin gene sequencing. Globally >300 β 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 identifies common α-globin gene deletions. Specific PCR across the junction caused by the unequal crossing over can detect α-gene triplication. However, heterozygosity or homozygous triplication cannot be resolved by this technique. Non-deletional α-thalassemia can be characterized by specific α-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.