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 …

Sickle-cell disease

DC Rees, TN Williams, MT Gladwin - The Lancet, 2010 - thelancet.com
Sickle-cell disease is one of the most common severe monogenic disorders in the world.
Haemoglobin polymerisation, leading to erythrocyte rigidity and vaso-occlusion, is central to …

Factors associated with survival in a contemporary adult sickle cell disease cohort

H Elmariah, ME Garrett, LM De Castro… - American journal of …, 2014 - Wiley Online Library
In this study, the relationship of clinical differences among patients with sickle cell disease
(SCD) was examined to understand the major contributors to early mortality in a …

Genetic modifiers of sickle cell disease

MH Steinberg, P Sebastiani - American journal of hematology, 2012 - Wiley Online Library
Sickle cell anemia is associated with unusual clinical heterogeneity for a Mendelian
disorder. Fetal hemoglobin concentration and coincident α thalassemia, both which directly …

Cardiovascular abnormalities in sickle cell disease

MT Gladwin, V Sachdev - Journal of the American College of Cardiology, 2012 - jacc.org
Sickle cell disease is characterized by recurrent episodes of ischemia-reperfusion injury to
multiple vital organ systems and a chronic hemolytic anemia, both contributing to …

Vasculopathy in sickle cell disease: Biology, pathophysiology, genetics, translational medicine and new research directions

GJ Kato, RP Hebbel, MH Steinberg… - American journal of …, 2009 - pmc.ncbi.nlm.nih.gov
Sickle cell disease has been very well characterized as a single amino acid molecular
disorder of hemoglobin leading to its pathological polymerization, with resulting red cell …

Beyond the definitions of the phenotypic complications of sickle cell disease: an update on management

SK Ballas, MR Kesen, MF Goldberg… - The Scientific World …, 2012 - Wiley Online Library
The sickle hemoglobin is an abnormal hemoglobin due to point mutation (GAG→ GTG) in
exon 1 of the β globin gene resulting in the substitution of glutamic acid by valine at position …

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 …

Differences in the clinical and genotypic presentation of sickle cell disease around the world

SL Saraf, RE Molokie, M Nouraie, CA Sable… - Paediatric respiratory …, 2014 - Elsevier
Sickle cell disease (SCD), caused by a mutation in the β-globin gene HBB, is widely
distributed in malaria endemic regions. Cardiopulmonary complications are major causes of …