Imperial College London

Dr Frédéric B. Piel

Faculty of MedicineSchool of Public Health

Senior Lecturer
 
 
 
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Contact

 

+44 (0)20 7594 3346f.piel

 
 
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Location

 

Praed StreetSt Mary's Campus

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Summary

 

Publications

Citation

BibTex format

@article{Gregory:2018:10.1038/nrdp.2018.10,
author = {Gregory, K and Piel, FBJ and Elliott, V},
doi = {10.1038/nrdp.2018.10},
journal = {Nature Reviews Disease Primers},
title = {Sickle cell disease},
url = {http://dx.doi.org/10.1038/nrdp.2018.10},
volume = {4},
year = {2018}
}

RIS format (EndNote, RefMan)

TY  - JOUR
AB - 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.
AU - Gregory,K
AU - Piel,FBJ
AU - Elliott,V
DO - 10.1038/nrdp.2018.10
PY - 2018///
SN - 2056-676X
TI - Sickle cell disease
T2 - Nature Reviews Disease Primers
UR - http://dx.doi.org/10.1038/nrdp.2018.10
UR - http://hdl.handle.net/10044/1/57817
VL - 4
ER -