Intravascular hemolysis and the pathophysiology of sickle cell disease

GJ Kato, MH Steinberg… - The Journal of clinical …, 2017 - Am Soc Clin Investig
Hemolysis is a fundamental feature of sickle cell anemia that contributes to its
pathophysiology and phenotypic variability. Decompartmentalized hemoglobin, arginase 1 …

Asplenia and spleen hypofunction

MV Lenti, S Luu, R Carsetti, F Osier… - Nature Reviews …, 2022 - nature.com
Asplenia (the congenital or acquired absence of the spleen) and hyposplenism (defective
spleen function) are common causes of morbidity and mortality. The spleen is a secondary …

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 …

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 …

Predicting clinical severity in sickle cell anaemia

MH Steinberg - British journal of haematology, 2005 - Wiley Online Library
The ability to predict the phenotype of an individual with sickle cell anaemia would allow a
reliable prognosis and could guide therapeutic decision making. Some risk factors for …

Genotypic and phenotypic composition of sickle cell disease in the Arab population-a systematic review

F Ata, A Rahhal, L Malkawi, P Iqbal… - Pharmacogenomics …, 2023 - Taylor & Francis
Sickle cell disease (SCD) is a genetic disease influenced by ethnicity and regional
differences in its clinical course. Recent advances in the management of SCD with newer …

Hyposplenism: a comprehensive review. Part I: basic concepts and causes

BM William, GR Corazza - Hematology, 2007 - Taylor & Francis
Hyposplenism is not a rare condition and can complicate a remarkable number of illnesses.
The two most time-honored diseases associated with the development of hyposplenism are …

The co-inheritance of alpha-thalassemia and sickle cell anemia is associated with better hematological indices and lower consultations rate in Cameroonian patients …

MB Rumaney, VJ Ngo Bitoungui, AA Vorster… - PloS one, 2014 - journals.plos.org
Background Co-inheritance of α-thalassemia was reported to be associated with a delayed
age of disease onset among Cameroonian Sickle Cell Anemia (SCA) patients. The present …

Susceptibility to invasive bacterial infections in children with sickle cell disease

AJ Battersby, HHM Knox‐Macaulay… - Pediatric blood & …, 2010 - Wiley Online Library
Individuals with sickle cell disease (SCD) demonstrate an increased susceptibility to
invasive bacterial infections (IBI). The most common organisms causing IBI are …

Coinheritance of α-thalassemia decreases the risk of cerebrovascular disease in a cohort of children with sickle cell anemia

AR Belisário, CV Rodrigues, ML Martins, CM Silva… - …, 2010 - Taylor & Francis
The study estimated α-thalassemia (α-thal) prevalence and assessed its associations with
clinical and hematological features in a random sample of Brazilian children with sickle cell …