Intravascular hemolysis and the pathophysiology of sickle cell disease
Hemolysis is a fundamental feature of sickle cell anemia that contributes to its
pathophysiology and phenotypic variability. Decompartmentalized hemoglobin, arginase 1 …
pathophysiology and phenotypic variability. Decompartmentalized hemoglobin, arginase 1 …
Sickle-cell disease
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 …
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 …
(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 …
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 …
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 …
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 …
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 …
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
Background The evolutionary pressure of endemic malaria and other erythrocytic pathogens
has shaped variation in genes encoding erythrocyte structural and functional proteins …
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
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 …
distributed in malaria endemic regions. Cardiopulmonary complications are major causes of …