Trusted Resources: Evidence & Education
Scientific literature and patient education texts
Sickle Cell Disease
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, USADOI: 10.1038/nrdp.2018.10
read more
+myBinderRelated Content
-
Explaining Blood Transfusions to a Child With Sickle Cell DiseaseYou are receiving this brochure because ...
-
SCA Therapy Hydroxyurea Doesn’t Boost Malaria Risk in Sub-Saharan Africa, Study FindsHydroxyurea, a treatment recommended for...
-
Stable-Isotope Dilution HPLC-Electrospray Ionization Tandem Mass Spectrometry Method for Quantifying Hydroxyurea in ...Background: Sickle cell anemia (SCA) i...
-
Let Your Light Shine: Yoga & MeditationPiedmont Health Services and Sickle Cell...
-
Sickle Cell Disease: Gene-Editing Tools Point to Possible Ultimate CureRecent advances in CRISPR/Cas9 gene-edit...
-
Sickle Cell Anemia Toddlers Benefit from Maximal Hydroxyurea Doses, Study FindsIntensifying treatment with hydroxyurea ...
-
CRISPR deployed to combat sickle-cell anaemiaA mutation in a single DNA letter causes...
To improve your experience on this site, we use cookies. This includes cookies essential for the basic functioning of our website, cookies for analytics purposes, and cookies enabling us to personalize site content. By clicking on 'Accept' or any content on this site, you agree that cookies can be placed. You may adjust your browser's cookie settings to suit your preferences. More Information
The cookie settings on this website are set to "allow cookies" to give you the best browsing experience possible. If you continue to use this website without changing your cookie settings or you click "Accept" below then you are consenting to this.
Powered by
Support for this site is provided by
This platform is made possible through a partnership with the Sickle Cell Disease Association of America, Inc. (SCDAA) and its member organizations. SCDAA's mission is to advocate for people affected by sickle cell conditions and empower community-based organizations to maximize quality of life and raise public consciousness while advancing the search for a universal cure.