Sickle Cell Disease

Although sickle cell anemia was the first molecular disease to be identified, its complex and fascinating pathophysiology is still not fully understood. A single mutation in the beta-globin gene incurs numerous molecular and cellular mechanisms that contribute to the plethora of symptoms associated with the disease. Our knowledge regarding sickle cell disease mechanisms, while still not complete, has broadened considerably over the last decades. Sickle Cell Anemia: From Basic Science to Clinical Practice aims to provide an update on our current understanding of the disease’s pathophysiology and use this information as a basis to discuss its manifestations in childhood and adulthood. Current therapies and prospects for the development of new approaches for the management of the disease are also covered.

Sickle Cell Pain is a panoramic, in-depth exploration of every scientific, human, and social dimension of this cruel disease. This comprehensive, definitive work is unique in that it is the only book devoted to sickle cell pain, as opposed to general aspects of the disease. The 752-page book links sickle cell pain to basic, clinical, and translational research, addressing various aspects of sickle pain from molecular biology to the psychosocial aspects of the disease. Supplemented with patient narratives, case studies, and visual art, Sickle Cell Pain’s scientific rigor extends through its discussion of analgesic pharmacology, including abuse-deterrent formulations. The book also addresses in great detail inequities in access to care, stereotyping and stigmatization of patients, the implications of rapidly evolving models of care, and recent legislation and litigation and their consequences.

The most comprehensive, current sickle cell disease resource—for both clinicians and researchers A Doody's Core Title for 2023! The first and only resource of its kind, Sickle Cell Disease examines this blood disorder through both clinical and research lenses. More than 80 dedicated experts in the field present their combined clinical knowledge of basic mechanisms, screening, diagnosis, management, and treatment of myriad complex complications of a single base point mutation in the human genome. Case studies with “How I Treat” authoritative insights provide overviews of common and rare complications, and Key Facts offer at-a-glance high-yield information. Filled with clinical photos, illustrations, numerous original diagrams, and with free updates available online, this unmatched resource covers: Mechanisms of sickle cell disease Historic and current research approaches The latest work in gene therapy and editing Guidelines for patient care, diagnosis, unique cases, and therapies Rare and common complications, including domestic and internationally relevant topics Psychosocial and supportive care The newest standards of therapy and future treatment options in children and adults Cardiopulmonary complications

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.

Sickle Cell Disease is the most common genetic disease world wide and in the UK. It has marked geographical variation in its distribution in the UK, with a concentration in London and other major conurbations (Birmingham and Manchester). In these areas, specialist centres have become established offering expert, up to date care for both inpatients and out patients with Sickle Cell Disease. Although patient numbers are increasing outside these areas, the expertise of health professionals can be patchy. This book aims to provide a user friendly, accessible resource for areas with smaller numbers of patients, to allow them to provide equitable care with the larger well established centres. Sickle Cell Disease can be associated with acute life threatening complications, when clear, easily available advice is needed, and with chronic long term complications which may need liaison with other health professionals. Clear treatment protocols for all the common complications of sickle cell disease, are outlined here, with summaries of key evidence and references.

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).

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.

Although more is known about sickle cell disease than about any other inherited disease, no cure for it exists. In America alone, about one in 375 who are of African ancestry is born with sickle cell disease. A smaller number of Americans descended from families from the Mediterranean area, the Middle East, and India also are affected. In addition, about eight percent of black Americans who do not suffer from the disease itself carry the gene for it that can be transmitted to their children. Sickle cell disease is of enormous biological, social, and historic importance. It was first described in medical literature almost a century ago. Improvements during the past two decades in our understanding of the disease and in medical care are permitting those afflicted to live longer, more comfortable and more productive lives. This book was written for all who are interested in this disease--those who have it, their families, the carriers of the sickle cell gene, teachers, and those who wish to update their information about it. This overview of sickle cell disease explains what it is and how it is inherited, as well as the relationship between the sickle cell gene and its geographic origins, the way the gene has been spread throughout history, and the effect of sickle cell hemoglobin on red blood cells that carry it. Understanding Sickle Cell Disease describes the variety of symptoms in both children and adults and details the emotional aspects of the disease. Of particular interest is a chapter on the care, especially the home care, of those who are affected. This book explains how it is possible today for couples carrying the genes to raise families free of the disease. Although there is no known cure for sickle cell disease, there is little doubt that one will ultimately be devised. This volume surveys current research efforts and the promise they hold.