Sickle Cell Disease

Perspective

HISTORY OF MEDICINE

Sickle Cell Disease — A History of Progress and Peril

Keith Wailoo, Ph.D.

N Engl J Med 2017; 376:805-807March 2, 2017DOI: 10.1056/NEJMp1700101

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Interview with Dr. Keith Wailoo on the medical and social context that has made progress in treating sickle cell disease slow and arduous. (11:31)

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Given the prevalence of sickle cell disease among black Americans, vexing questions of race and stigma have shadowed the history of its medical treatment. Recent developments in treating pain crises and gene therapy are part of a complex history of slow progress tinged with constant peril.

A century ago, people with sickle cell disease were clinically invisible. Even after James Herrick identified the “peculiar elongated and sickle-shaped red blood cells” associated with the disorder in 1910, it was often and easily misdiagnosed. Vulnerable to infectious diseases in a time when infant mortality ran high, most children would have been diagnosed not with sickle cell disease but with whatever infectious disease was currently prevalent. When Johns Hopkins–trained pathologist Lemuel Diggs began focusing on the disease in the 1920s, the malady was still rarely diagnosed. It was easy to misinterpret the recurrent fever, frequent infections, enlarged spleen, and excruciatingly painful episodes as indications of a bout of malaria, which was endemic in the Memphis region where Diggs worked. Through the 1930s, diagnosis remained challenging, and therapy generally consisted of treating the symptoms. As one observer commented in the 1950s, sickle cell disease was “a great masquerader.”1/.../