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Sickle cell disease

key information

source: The Lancet

year: 2017

authors: Ware RE, de Montalembert M, Tshilolo L, Abboud MR

summary/abstract:

Sickle cell disease is a common and life-threatening haematological disorder that affects millions of people worldwide. Abnormal sickle-shaped erythrocytes disrupt blood flow in small vessels, and this vaso-occlusion leads to distal tissue ischaemia and inflammation, with symptoms defining the acute painful sickle-cell crisis. Repeated sickling and ongoing haemolytic anaemia, even when subclinical, lead to parenchymal injury and chronic organ damage, causing substantial morbidity and early mortality. Currently available treatments are limited to transfusions and hydroxycarbamide, although stem cell transplantation might be a potentially curative therapy. Several new therapeutic options are in development, including gene therapy and gene editing. Recent advances include systematic universal screening for stroke risk, improved management of iron overload using oral chelators and non-invasive MRI measurements, and point-of-care diagnostic devices. Controversies include the role of haemolysis in sickle cell disease pathophysiology, optimal management of pregnancy, and strategies to prevent cerebrovascular disease.

organization: Cincinnati Children's Hospital Medical Center; Hopital Necker, LABEX GR-Ex, Paris; Centre Hospitalier Monkole, Kinshasa; American University of Beirut

DOI: 10.1016/S0140-6736(17)30193-9

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