Sickle cell disease.
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.
Division of Hematology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. Electronic address: russell.ware@cchmc.org.
Russell E
RE
Ware
Department of Pediatrics, Hopital Necker, LABEX GR-Ex, Paris, France.
Mariane
M
de Montalembert
Centre Hospitalier Monkole, Kinshasa, Democratic Republic of Congo.
Léon
L
Tshilolo
Department of Pediatrics, American University of Beirut, Beirut, Lebanon.
Miguel R
MR
Abboud
D000755:Anemia, Sickle Cell / Q000150:complications / Q000175:diagnosis / Q000628:therapy*; D000986:Antisickling Agents / Q000627:therapeutic use; D001803:Blood Transfusion / Q000379:methods; D002561:Cerebrovascular Disorders / Q000517:prevention & control; D002908:Chronic Disease; D042241:Early Diagnosis; D005260:Female; D015316:Genetic Therapy / Q000379:methods; D000071219:Global Burden of Disease; D006461:Hemolysis; D006462:Hemolytic Plaque Technique; D006801:Humans; D006918:Hydroxyurea / Q000627:therapeutic use; D019190:Iron Overload / Q000628:therapy; D019095:Point-of-Care Systems; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000517:prevention & control; D033581:Stem Cell Transplantation / Q000379:methods; D020521:Stroke / Q000209:etiology / Q000517:prevention & control
D000986:Antisickling Agents; D006918:Hydroxyurea