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Sickle Cell Disease

key information

source: Nature Reviews Disease Primers

year: 2018

authors: Gregory J. Kato, Frédéric B. Piel, Clarice D. Reid, Marilyn H. Gaston, Kwaku Ohene-Frempong, Lakshmanan Krishnamurti, Wally R. Smith, Julie A. Panepinto, David J. Weatherall, Fernando F. Costa & Elliott P. Vichinsky

summary/abstract:

Sickle cell disease (SCD) is a group of inherited disorders caused by mutations in HBB, which encodes haemoglobin subunit β. The incidence is estimated to be between 300,000 and 400,000 neonates globally each year, the majority in sub-Saharan Africa. Haemoglobin molecules that include mutant sickle β-globin subunits can polymerize; erythrocytes that contain mostly haemoglobin polymers assume a sickled form and are prone to haemolysis. Other pathophysiological mechanisms that contribute to the SCD phenotype are vaso-occlusion and activation of the immune system. SCD is characterized by a remarkable phenotypic complexity.

Common acute complications are acute pain events, acute chest syndrome and stroke; chronic complications (including chronic kidney disease) can damage all organs. Hydroxycarbamide, blood transfusions and haematopoietic stem cell transplantation can reduce the severity of the disease. Early diagnosis is crucial to improve survival, and universal newborn screening programmes have been implemented in some countries but are challenging in low-income, high-burden settings.

organization: University of Pittsburgh, USA; Imperial College London, UK; National Heart, Lung and Blood Institute, USA; The Gaston and Porter Health Improvement Center, USA; Sickle Cell Foundation of Ghana, Ghana; Emory University School of Medicine, USA; Virginia Commonwealth University, USA; Medical College of Wisconsin and Children's Hospital of Wisconsin, USA; John Radcliffe Hospital, UK; University of Campinas - UNICAMP, Brazil; University of California, USA

DOI: 10.1038/nrdp.2018.10

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