Book Review

Sickle Cell Disease: Basic principles and clinical practice

N Engl J Med 1995; 332:403February 9, 1995

Article

Sickle Cell Disease: Basic principles and clinical practice
Edited by Stephen H. Embury, Robert P. Hebbel, Narla Mohandas, and Martin H. Steinberg. 902 pp., illustrated. New York, Raven Press, 1994. $145. ISBN: 0-7817-0142-2

Hemoglobin S arose as a protection against malarial infection. However, it has also given rise to untold misery, pain, and suffering in hundreds of thousands of people who happen to be homozygous for the sickle-cell gene. The multiple causes of the disease and its complications have been meticulously studied. There are now few diseases that are better understood — biochemically, pathophysiologically, clinically, and pharmacologically — than sickle cell disease. Yet this knowledge has yielded few therapeutic interventions other than those used to treat complications or symptoms of the disease. Recently, though, quantum leaps in scientific technology indicate that a cure for sickle cell disease may be imminent.

This book documents developments in the study of sickle cell disease: its historical development, epidemiologic and pathophysiologic features, clinical manifestations, and treatments past, present, and future. Appropriately, it begins with a foreword by the man who first discovered the biochemical cause of the disease, the late Linus Pauling. This introduction is suitably balanced with an inspiring afterword from a leading figure in present and future studies, Clarice Reid, chief of the Sickle Cell Disease Branch at the National Heart, Lung, and Blood Institute.

The chapters themselves are arranged in groups relating to sickle hemoglobin, cellular abnormalities, pathophysiology, natural history, diagnostic aspects of the disease, clinical considerations, and therapy. In each group, one or more of the book's editors gives an introduction that places the subsequent information in perspective. The chapters contain comprehensive information on virtually all aspects of sickle cell disease. Extensive and up-to-date citations represent different sides of the controversial issues that are courageously covered by the editors. For example, one chapter that reviews the sickle-cell trait lays to rest (finally and thankfully) the recommendation of some groups that men with the sickle-cell trait be restricted from playing on athletic teams and serving in the military.

As in any book of such broad scope, some sections are controversial. Sections on the surgical management of priapism may be met with skepticism, and those on screening of newborns may leave the reader wondering about the outcomes of such programs. The chapters dealing with the psychopathology of patients with sickle cell disease seem to underemphasize the importance of impotence, which is present in 30 percent of men with the disease, as a contributing factor to problems in intimacy. Nevertheless, the presentation of most information about sickle cell disease is comprehensive and fair. The photographs, color plates, figures, diagrams, and electron micrographs greatly clarify and enhance the text.

This book has three major strengths: it is comprehensive; the list of authors reads like a Who's Who in research on sickle cell disease, with much of the research discussed by the original investigators; and the book focuses on the future. Most of the chapters highlight areas in which future work and advances are needed; a chapter on transgenic-mouse models even suggests ways in which new treatments can be tested quickly and safely. The description of these models allows the reader to realize how slow clinical advances were without them and how quickly work can now progress. Appropriately, enthusiasm for the mouse model is tempered by warnings about extrapolating research results in mice to clinical problems in patients.

Other chapters deal with gene therapy, manipulation of fetal hemoglobin, and bone marrow transplantation in sickle cell disease — therapies that may be curative in and of themselves. The scientific and clinical aspects of these innovative measures are explored in depth. Their ethical aspects are also discussed — specifically, the ethics of using new, invasive, and potentially dangerous therapies to improve the quality of life, rather than to save life, as in other diseases.

I recommend Sickle Cell Disease for its content, its authors, and their perspective and optimism. It provides a solid foundation for future information about sickle cell disease and will surely inspire young and senior physicians alike to meet the challenges ahead. In my opinion, it is “must” reading for hematologists and highly recommended for other health practitioners.

Paulette Mehta, M.D.
University of Florida College of Medicine, Gainesville, FL 32610