[HTML][HTML] Determinants of severity in sickle cell disease

DC Rees, VAM Brousse, JN Brewin - Blood Reviews, 2022 - Elsevier
Sickle cell disease is a very variable condition, with outcomes ranging from death in
childhood to living relatively symptom free into the 8 th decade. Much of this variability is …

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 …

The pleiotropic effects of α‐thalassemia on HbSS and HbSC sickle cell disease: Reduced erythrocyte cation co‐transport activity, serum erythropoietin, and …

JN Brewin, A Nardo‐Marino… - American Journal of …, 2022 - Wiley Online Library
Abstract α‐Thalassemia is one of the most important genetic modulators of sickle cell
disease (SCD). Both beneficial and detrimental effects have been described previously. We …

[PDF][PDF] Genetic modifiers of sickle cell disease

T Pincez, AE Ashley-Koch, G Lettre, MJ Telen - … /Oncology Clinics of North …, 2022 - Elsevier
Studies of genetic variants and their associations with disease outcomes using recent
molecular technology advances and the broad variety of statistical methodologies available …

Precision medicine and sickle cell disease

S El Hoss, W El Nemer, DC Rees - Hemasphere, 2022 - journals.lww.com
Sickle cell disease (SCD) is characterized by variable clinical outcomes, with some patients
suffering life-threatening complications during childhood, and others living relatively …

Oxygen gradient ektacytometry does not predict pain in children with sickle cell anaemia

A Nardo‐Marino, J Petersen, JN Brewin… - British journal of …, 2022 - Wiley Online Library
The loss of red blood cell (RBC) deformability in sickle cell anaemia (SCA) is considered the
primary factor responsible for episodes of acute pain and downstream progressive organ …

Genetic Modifiers of Stroke in Patients with Sickle Cell Disease—A Scoping Review

MO Oni, M Brito, C Rotman, NM Archer - International Journal of …, 2024 - mdpi.com
Sickle cell disease (SCD) clinically manifests itself with a myriad of complications. Stroke,
both ischemic and hemorrhagic, as well as silent white matter changes, occurs at a relatively …

[HTML][HTML] A novel index to evaluate ineffective erythropoiesis in hematological diseases offers insights into sickle cell disease

J Brewin, S El Hoss, J Strouboulis, D Rees - haematologica, 2022 - ncbi.nlm.nih.gov
G6PD 0 11 4 0 2 1 0 0 gHbF N/A 2.718 2.135 2.137 2.1777 2.144 N/AN/A (1.89-2.62)(1.89-
2.69)(1.89-2.49)(1.89-2.49)(1.89-2.32) α-thalassemic N/A 131 αα/αα, 39 αα/αα, 31 αα/αα, 62 …

Genetic Variants Associated with the Risk of Stroke in Sickle Cell Anemia: Systematic Review and Meta-Analysis

A Kumari, G Chauhan, PK Chaudhuri, S Kumari… - …, 2024 - Taylor & Francis
Sickle cell anemia (SCA) is the most common cause of stroke in children. As it is a rare
disease, studies investigating the association with complications like stroke in SCD have …

Genetic variants associated with the risk of stroke in sickle cell disease: a systematic review and meta-analysis

A Kumari, G Chauhan, PK Chaudhuri, A Prasad - medRxiv, 2023 - medrxiv.org
Background: Sickle cell disease (SCD) is the commonest cause of stroke in children. As it is
a rare disease, studies investigating the association with complications like stroke in SCD …