Sickle cell disease. Nat Rev Dis Primers 2018 Mar 15;4:18010
Date
03/16/2018Pubmed ID
29542687DOI
10.1038/nrdp.2018.10Scopus ID
2-s2.0-85044217772 (requires institutional sign-in at Scopus site) 408 CitationsAbstract
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.
Author List
Kato GJ, Piel FB, Reid CD, Gaston MH, Ohene-Frempong K, Krishnamurti L, Smith WR, Panepinto JA, Weatherall DJ, Costa FF, Vichinsky EPMESH terms used to index this publication - Major topics in bold
Acute Chest SyndromeAnemia, Sickle Cell
Blood Transfusion
Disease Management
Humans
Infant, Newborn
Neonatal Screening
Oxidative Stress
Pain
Quality of Life
Stroke