New hope for treating sickle cell disease patients

New hope for treating sickle cell disease patients

Lauren Gravitz

This article is “Innovation in Sickle Cell Disease” is an editorially independent special report. Vertex Pharmaceuticals.

The oldest known evidence of sickle cell disease dates back more than 7,000 years, and the disease was first described in medical literature more than a century ago. It was the first molecular disease described in which a single mutation in a single gene causes a hereditary disorder. The trait is often asymptomatic in individuals with one copy of the mutated gene, but if one copy is inherited from each parent, the disease can become excruciating. The mutation produces abnormal hemoglobin that causes red blood cells to curve into a characteristic sickle shape, making them stiff and sticky. Eventually, the sickle cells are unable to efficiently deliver oxygen to tissues throughout the body. If untreated, the disease can lead to sepsis, pneumonia, strokes, heart attacks, and the intense pain that occurs when blood vessels become blocked during vaso-occlusive episodes.

The disease affects millions of people worldwide—some estimates put the number as high as 20 million—but despite its historical importance and widespread occurrence, it remains underfunded, understudied, and undertreated. People with the disease in the United States benefit from testing and treatment from birth, and over the past 50 years, the average life expectancy of patients has increased from 14 to 53 years. But people too often encounter a biased health care system that discredits complaints of extreme pain and is prone to accuse them of seeking drugs. In low-income countries, where sickle cell disease is most prevalent and where newborn screening for the disease is limited or nonexistent, children with sickle cell disease too often do not survive past age 5.

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Patients, physicians, researchers, and advocates are demanding change. As technological advances allow for more accurate and portable options, some are expanding testing and treatment options in places like sub-Saharan Africa. Others are shedding light on patients’ experiences, showing how the pain of sickle cell disease is among the most intense pain they’ll ever experience, and exploring new ways to prevent the pain as well as relieve it once it starts. They are pursuing increased funding and new public health policies to ease the burden in low-income countries, improve patients’ lives, and spur genomic medicine research. And they are moving new treatments through the discovery pipeline and into the clinic, where patients are finally beginning to reap the benefits. Most of all, they are giving voice to people with sickle cell disease who have been ignored for too long.