Sickle cell disease

GJ Kato, FB Piel, CD Reid, MH Gaston… - Nature reviews Disease …, 2018 - nature.com
Sickle cell disease (SCD) is a group of inherited disorders caused by mutations in HBB,
which encodes haemoglobin subunit β. The incidence is estimated to be between 300,000 …

Ischemia and reperfusion—from mechanism to translation

HK Eltzschig, T Eckle - Nature medicine, 2011 - nature.com
Ischemia and reperfusion–elicited tissue injury contributes to morbidity and mortality in a
wide range of pathologies, including myocardial infarction, ischemic stroke, acute kidney …

Heme triggers TLR4 signaling leading to endothelial cell activation and vaso-occlusion in murine sickle cell disease

JD Belcher, C Chen, J Nguyen… - Blood, The Journal …, 2014 - ashpublications.org
Abstract Treatment of sickle cell disease (SCD) is hampered by incomplete understanding of
pathways linking hemolysis to vaso-occlusion. We investigated these pathways in …

Treating sickle cell disease by targeting HbS polymerization

WA Eaton, HF Bunn - Blood, The Journal of the American …, 2017 - ashpublications.org
Although the root cause of sickle cell disease is the polymerization of hemoglobin S (HbS) to
form fibers that make red cells less flexible, most drugs currently being assessed in clinical …

Therapeutic strategies for sickle cell disease: towards a multi-agent approach

MJ Telen, P Malik, GM Vercellotti - Nature reviews Drug discovery, 2019 - nature.com
For over 100 years, clinicians and scientists have been unravelling the consequences of the
A to T substitution in the β-globin gene that produces haemoglobin S, which leads to the …

[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 …

Sickle cell pain: a critical reappraisal

SK Ballas, K Gupta… - Blood, The Journal of the …, 2012 - ashpublications.org
Sickle cell pain includes 3 types: acute recurrent painful crises, chronic pain syndromes, and
neuropathic pain. The acute painful crisis is the hallmark of the disease and the most …

Acute chest syndrome in children with sickle cell disease

S Jain, N Bakshi, L Krishnamurti - Pediatric allergy, immunology …, 2017 - liebertpub.com
Acute chest syndrome (ACS) is a frequent cause of acute lung disease in children with sickle
cell disease (SCD). Patients may present with ACS or may develop this complication during …

Randomized phase 2 study of GMI-1070 in SCD: reduction in time to resolution of vaso-occlusive events and decreased opioid use

MJ Telen, T Wun, TL McCavit… - Blood, The Journal …, 2015 - ashpublications.org
Abstract Treatment of vaso-occlusive crises (VOC) or events in sickle cell disease (SCD)
remains limited to symptom relief with opioids. Animal models support the effectiveness of …

Insight into the complex pathophysiology of sickle cell anaemia and possible treatment

A Piccin, C Murphy, E Eakins… - European journal of …, 2019 - Wiley Online Library
Sickle cell anaemia (SCA) is the consequence of abnormal haemoglobin production due to
an inherited point mutation in the β‐globin gene. The resulting haemoglobin tetramer is …