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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.
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.
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.
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.
Sickle cell disease can be severe and disabling. When properly treated, patients live longer and with better quality life. This is a US government publication intended to provide evidence-based guidelines for the care of these patients for the use of all concerned providers as well as patients and family members. This book is available in print here for convenience.
Completely revised new edition of the definitive reference on disorders of hemoglobin.
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.
Maternal-fetal medicine has evolved over the last three decades to become a well-established discipline. The current understanding of maternal physiology and pathophysiology has allowed us to obtain more accurate diagnoses and to provide more effective treatments of medical, surgical, and obstetrical maternal complications. More importantly, the fetus has become a distinct individual whose in utero environment has become much more accessible to study, diagnose, and treatment. Clinical Maternal-Fetal Medicine addresses the pathophysiology, diagnosis, and treatment of common medical and obstetrical maternal complications and fetal complications. It provides a concise and timely review of clinically relevant topics in this discipline. The textbook is a comprehensive reference covering the wide range of disciplines that make up maternal-fetal medicine.
This book addresses a wide range of clinically relevant topics and issues in sickle cell disease. This is written by experts in their own field offering a robust, engaging discussion about the presentations and mechanisms of actions in the multiple complications associated with sickle cell disease. This first of the series addresses pain, which is considered the hallmark of sickle cell presentation. It looks at the basic mechanism of pain in sickle cell disease. A more detailed review of precision medicine gives a clear well laid out presentation that is incisive and yet gives in-depth detail relevant to both the clinician and the researcher in the basic laboratory. The same pattern is shown in the discussion on respiratory, cardiac and neurological complications. The 14 chapters also include an overview of sickle cell disease especially in the paediatric age. The content is organized into well-designed broad sections on overview regarding diagnosis including point of care and the role of digital apps in patient management. A key aspect of the book is the opportunity it affords expert physicians to express well-reasoned opinions regarding complex issues in sickle cell disease. The readership would find that it provides a well-described, concise and immediate applicable answers to complex questions. This is highly recommended for scientists and clinicians alike.