Pathophysiology of sickle cell disease

P Sundd, MT Gladwin, EM Novelli - Annual review of pathology …, 2019‏ - annualreviews.org
Since the discovery of sickle cell disease (SCD) in 1910, enormous strides have been made
in the elucidation of the pathogenesis of its protean complications, which has inspired recent …

Intravascular hemolysis and the pathophysiology of sickle cell disease

GJ Kato, MH Steinberg, MT Gladwin - The Journal of clinical investigation, 2017‏ - jci.org
Hemolysis is a fundamental feature of sickle cell anemia that contributes to its
pathophysiology and phenotypic variability. Decompartmentalized hemoglobin, arginase 1 …

The red blood cell—inflammation vicious circle in sickle cell disease

E Nader, M Romana, P Connes - Frontiers in immunology, 2020‏ - frontiersin.org
Sickle cell disease (SCD) is a genetic disease caused by a single mutation in the β-globin
gene, leading to the production of an abnormal hemoglobin called hemoglobin S (HbS) …

Hematopoietic stem cell transplantation in thalassemia major and sickle cell disease: indications and management recommendations from an international expert …

E Angelucci, S Matthes-Martin, D Baronciani… - …, 2014‏ - pmc.ncbi.nlm.nih.gov
Thalassemia major and sickle cell disease are the two most widely disseminated hereditary
hemoglobinopathies in the world. The outlook for affected individuals has improved in recent …

Microvesicles in vascular homeostasis and diseases

VC Ridger, CM Boulanger… - Thrombosis and …, 2017‏ - thieme-connect.com
Microvesicles are members of the family of extracellular vesicles shed from the plasma
membrane of activated or apoptotic cells. Microvesicles were initially characterised by their …

Circulating cell membrane microparticles transfer heme to endothelial cells and trigger vasoocclusions in sickle cell disease

SM Camus, JA De Moraes, P Bonnin… - Blood, The Journal …, 2015‏ - ashpublications.org
Intravascular hemolysis describes the relocalization of heme and hemoglobin (Hb) from
erythrocytes to plasma. We investigated the concept that erythrocyte membrane …

Genetic variation and sickle cell disease severity: a systematic review and meta-analysis

JK Kirkham, JH Estepp, MJ Weiss… - JAMA network …, 2023‏ - jamanetwork.com
Importance Sickle cell disease (SCD) is a monogenic disorder, yet clinical outcomes are
influenced by additional genetic factors. Despite decades of research, the genetics of SCD …

Cardiovascular complications and risk of death in sickle-cell disease

MT Gladwin - The Lancet, 2016‏ - thelancet.com
In sickle-cell disease, a point mutation in the β-globin chain causes haemoglobin to
polymerise within erythrocytes during deoxygenation, altering red blood cell rheology and …

Pathophysiology and treatment of pulmonary hypertension in sickle cell disease

VR Gordeuk, OL Castro… - Blood, The Journal of the …, 2016‏ - ashpublications.org
Pulmonary hypertension affects∼ 10% of adult patients with sickle cell disease (SCD),
particularly those with the homozygous genotype. An increase in pulmonary artery systolic …

Multiple-ancestry genome-wide association study identifies 27 loci associated with measures of hemolysis following blood storage

GP Page, T Kanias, YJ Guo, MC Lanteri, X Zhang… - The Journal of Clinical …, 2021‏ - jci.org
Background The evolutionary pressure of endemic malaria and other erythrocytic pathogens
has shaped variation in genes encoding erythrocyte structural and functional proteins …