Foreword

The publication of Sickle Cell Disease couldn't be timelier. Following Herrick's initial description of the clinical manifestations in 1910 and the discovery of sickle hemoglobin by Pauling and Itano nearly 50 years later, there has been substantial, albeit slow, progress in working out the molecular and cellular pathogenesis of the disease as well as the development of safe and effective therapies. For many decades funding both from the National Institutes of Health and the pharmaceutical industry for sickle cell disease has been disproportionately low, considering the importance of this disease, both in prevalence and severity. During this period of "slow growth," enticing enough young well-trained lab and clinical investigators to work on this disease was a challenge. Happily, during the past several years, sickle cell research has gained a robust lease on life. The impressive up-swing in scientific and clinical abstracts and presentations at recent national meetings bears this out. Importantly, Pharma is now making a major commitment, with the development of an impressive array of novel drugs that target critical sites in the pathogenesis pathway. This well-spring of enthusiasm has culminated in the realization, during the past year, that gene therapy is now in hand, with realistic prospects for disease amelioration and possible cure. With the expanding cadre of multidisciplinary scientists and clinicians entering research on sickle cell disease, this all-encompassing book will be a valuable resource.

Comparable and parallel progress in how individuals living with sickle cell disease are perceived and treated by their caregivers is paramount. In the United States, during the past century, many patients with sickle cell disease have not received proper empathy and respect from providers. Emergency rooms nationwide have often stereotyped them as "frequent flyers" and "drug-seekers." This may stem, in part, from the consequences of implicit bias and systemic racism. Unfortunately, such negative attitudes often surface in clinical settings in which caregivers are frustrated by the lack of effective therapies. In the past, emergency rooms also treated patients with severe hemophilia and painful hemarthroses in a similarly dismissive manner. However, during the last 25 years with huge advances in hemophilia care, especially self-administration of factor VIII, and now with targeted and gene therapy options, individuals living with hemophilia are now given fully appropriate respect and attention. We have every reason to hope that such a transition in attitude will occur with sickle cell caregivers.

New therapies and enlightened providers can improve the lives of people with sickle cell disease only in a setting of adequate and proper access to healthcare. Scores of years have passed since the introduction of regimens that improve and extend life such as penicillin prophylaxis, hydroxyurea, and transfusions for stroke prevention. And yet, application of these and other interventions remains distressingly suboptimal. As a result, the life expectancy of people with sickle cell disease remains shortened by decades relative to the general population. Injury from sickle cell disease begins in infancy and progresses inexorably. Access to comprehensive, multidisciplinary care beginning in childhood would extend and improve quality of life, even using currently available tools. A key to the advance in quality care for people with hemophilia was the introduction of federally supported Hemophilia Treatment Centers that are the exemplar of chronic care for an inherited illness. People with sickle cell disease deserve nothing less.

It is important that we be better educated about all aspects of sickle cell disease. This book sheds considerable light at the end of the above-mentioned dark tunnel. It covers in detail very exciting advances now underway in elucidating molecular and cellular mechanisms of pathogenesis, as well as novel and increasingly effective approaches in treatment. Let's hope that this progress leads not only to prevention of pain episodes and organ damage but also a fully supportive, unbiased attitude among physicians and nurses involved in the care of patients with sickle cell disease.