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Biomedicines
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Sickle Cell Disease: Recent Advances in Pathophysiology and Therapy
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Sickle Cell Disease: Recent Advances in Pathophysiology and Therapy

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Cell Biology and Pathology".

Deadline for manuscript submissions: closed (31 August 2023) | Viewed by 9984

Special Issue Editor

Dr. Tomasz Brzóska

E-Mail Website
Guest Editor
Pittsburgh Heart, Lung and Blood Vascular Medicine Institute, Division of Hematology/Oncology, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15261, USA
Interests: sickle cell disease; hemostasis; platelets; thrombo-inflammation; extracellular vesicles; vasculopathy

Special Issue Information

Dear Colleagues,

It has been more than a century since James Herrick, a Professor of Medicine in Chicago, for the first time, described abnormally sickle-shaped erythrocytes in a blood smear from a student of Caribbean ancestry. Since then, our understanding of sickle cell disease (SCD) improved immensely. Over the past decade in particular, major global efforts have been mounted to address the convergence of multiple pathological phenomena, such as hemoglobin S polymerization–dependent erythrocyte hemolysis and sickling, vasoocclusion-dependent ischemia-reperfusion injury, endothelial dysfunction–dependent vasculopathy, and sterile inflammation, to promote multi-organ acute and chronic complications in SCD. These studies inspired the development of several therapies that are either already approved or currently in clinical trials. For this Special Issue entitled “Sickle Cell Disease: Recent Advances in Pathophysiology and Therapy”, I invite papers on the following topics:

  • Acute and chronic organ complications in SCD: pathophysiology, current and future therapies;
  • Sterile inflammation in SCD: pathophysiology, current and future therapies;
  • Emerging role of extracellular vesicles in the pathophysiology, diagnosis and treatment of SCD.

Dr. Tomasz Brzóska
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Biomedicines is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • sickle cell disease
  • acute chest syndrome
  • hemolysis
  • sterile inflammation
  • reperfusion injury
  • oxidative stress
  • infraction
  • extracellular vesicles
  • vasculopathy

Published Papers (5 papers)

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Research

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11 pages, 456 KiB  
Article
Outcomes of Pregnancy in Sickle Cell Disease Patients: Results from the Prospective ESCORT-HU Cohort Study
by Anoosha Habibi, Giovanna Cannas, Pablo Bartolucci, Ersi Voskaridou, Laure Joseph, Emmanuelle Bernit, Justine Gellen-Dautremer, Corine Charneau, Stephanie Ngo and Frédéric Galactéros
Biomedicines 2023, 11(2), 597; https://doi.org/10.3390/biomedicines11020597 - 17 Feb 2023
Cited by 5 | Viewed by 2104
Abstract
Sickle cell disease (SCD) refers to a group of inherited hemoglobin disorders in which sickle red blood cells display altered deformability, leading to a significant burden of acute and chronic complications, such as vaso-occlusive pain crises (VOCs). Hydroxyurea is a major therapeutic agent [...] Read more.
Sickle cell disease (SCD) refers to a group of inherited hemoglobin disorders in which sickle red blood cells display altered deformability, leading to a significant burden of acute and chronic complications, such as vaso-occlusive pain crises (VOCs). Hydroxyurea is a major therapeutic agent in adult and pediatric sickle cell patients. This treatment is an alternative to transfusion in some complications. Indeed, it increases hemoglobin F and has an action on the endothelial adhesion of red blood cells, leukocytes, and platelets. Although the safety profile of hydroxyurea (HU) in patients with sickle cell disease has been well established, the existing literature on HU exposure during pregnancy is limited and incomplete. Pregnancy in women with SCD has been identified as a high risk for the mother and fetus due to the increased incidence of maternal and non-fetal complications in various studies and reports. For women on hydroxyurea at the time of pregnancy, transfusion therapy should probably be initiated after pregnancy. In addition, there is still a significant lack of knowledge about the incidence of pregnancy, fetal and maternal outcomes, and management of pregnant women with SCD, making it difficult to advise women or clinicians on outcomes and best practices. Therefore, the objective of this study was to describe pregnancy outcomes (n = 128) reported in the noninterventional European Sickle Cell Disease COhoRT-HydroxyUrea (ES-CORT-HU) study. We believe that our results are important and relevant enough to be shared with the scientific community. Full article
(This article belongs to the Special Issue Sickle Cell Disease: Recent Advances in Pathophysiology and Therapy)
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Review

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28 pages, 3397 KiB  
Review
Thrombo-Inflammation in COVID-19 and Sickle Cell Disease: Two Faces of the Same Coin
by Kate Chander Chiang, Ajay Gupta, Prithu Sundd and Lakshmanan Krishnamurti
Biomedicines 2023, 11(2), 338; https://doi.org/10.3390/biomedicines11020338 - 25 Jan 2023
Cited by 4 | Viewed by 3283
Abstract
People with sickle cell disease (SCD) are at greater risk of severe illness and death from respiratory infections, including COVID-19, than people without SCD (Centers for Disease Control and Prevention, USA). Vaso-occlusive crises (VOC) in SCD and severe SARS-CoV-2 infection are both characterized [...] Read more.
People with sickle cell disease (SCD) are at greater risk of severe illness and death from respiratory infections, including COVID-19, than people without SCD (Centers for Disease Control and Prevention, USA). Vaso-occlusive crises (VOC) in SCD and severe SARS-CoV-2 infection are both characterized by thrombo-inflammation mediated by endothelial injury, complement activation, inflammatory lipid storm, platelet activation, platelet-leukocyte adhesion, and activation of the coagulation cascade. Notably, lipid mediators, including thromboxane A2, significantly increase in severe COVID-19 and SCD. In addition, the release of thromboxane A2 from endothelial cells and macrophages stimulates platelets to release microvesicles, which are harbingers of multicellular adhesion and thrombo-inflammation. Currently, there are limited therapeutic strategies targeting platelet-neutrophil activation and thrombo-inflammation in either SCD or COVID-19 during acute crisis. However, due to many similarities between the pathobiology of thrombo-inflammation in SCD and COVID-19, therapies targeting one disease may likely be effective in the other. Therefore, the preclinical and clinical research spurred by the COVID-19 pandemic, including clinical trials of anti-thrombotic agents, are potentially applicable to VOC. Here, we first outline the parallels between SCD and COVID-19; second, review the role of lipid mediators in the pathogenesis of these diseases; and lastly, examine the therapeutic targets and potential treatments for the two diseases. Full article
(This article belongs to the Special Issue Sickle Cell Disease: Recent Advances in Pathophysiology and Therapy)
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Other

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9 pages, 2518 KiB  
Brief Report
Long-Term L-Glutamine Treatment Reduces Hemolysis without Ameliorating Hepatic Vaso-Occlusion and Liver Fibrosis in a Mouse Model of Sickle Cell Disease
by Omika Katoch, Ramakrishna Ungalara, Tomasz Kaminski, Ziming Li, Rikesh K. Dubey, Isabella Burholt, Shweta Gudapati and Tirthadipa Pradhan-Sundd
Biomedicines 2023, 11(9), 2412; https://doi.org/10.3390/biomedicines11092412 - 29 Aug 2023
Viewed by 1103
Abstract
Sickle cell disease (SCD) is an autosomal recessive monogenic disorder caused by a homozygous mutation in the β-globin gene, which leads to erythrocyte sickling, hemolysis, vaso-occlusion, and sterile inflammation. The administration of oral L-glutamine has been shown to reduce the frequency of pain [...] Read more.
Sickle cell disease (SCD) is an autosomal recessive monogenic disorder caused by a homozygous mutation in the β-globin gene, which leads to erythrocyte sickling, hemolysis, vaso-occlusion, and sterile inflammation. The administration of oral L-glutamine has been shown to reduce the frequency of pain in SCD patients; however, the long-term effect of L-glutamine in SCD remains to be determined. To understand the long-term effect of L-glutamine administration in the liver we used quantitative liver intravital microscopy and biochemical analysis in humanized SCD mice. We here show that chronic L-glutamine administration reduces hepatic hemoglobin–heme–iron levels but fails to ameliorate ischemic liver injury. Remarkably, we found that this failure in the resolution of hepatobiliary injury and persistent liver fibrosis is associated with the reduced expression of hepatic Kupffer cells post-L-glutamine treatment. These findings establish the importance of investigating the long-term effects of L-glutamine therapy on liver pathophysiology in SCD patients. Full article
(This article belongs to the Special Issue Sickle Cell Disease: Recent Advances in Pathophysiology and Therapy)
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8 pages, 662 KiB  
Brief Report
Insulin-like Growth Factor-1 Prevents Hypoxia/Reoxygenation-Induced White Matter Injury in Sickle Cell Mice
by Rimi Hazra, Holland Hubert, Lynda Little-Ihrig, Samit Ghosh, Solomon Ofori-Acquah, Xiaoming Hu and Enrico M Novelli
Biomedicines 2023, 11(3), 692; https://doi.org/10.3390/biomedicines11030692 - 24 Feb 2023
Cited by 2 | Viewed by 1603
Abstract
Occlusion of cerebral blood vessels causes acute cerebral hypoxia—an important trigger of ischemic white matter injury and stroke in sickle cell disease (SCD). While chronic hypoxia triggers compensatory neuroprotection via insulin-like growth factor-1 (IGF-1) and hypoxia inducible factor-1α (HIF-1α), severe bouts of acute [...] Read more.
Occlusion of cerebral blood vessels causes acute cerebral hypoxia—an important trigger of ischemic white matter injury and stroke in sickle cell disease (SCD). While chronic hypoxia triggers compensatory neuroprotection via insulin-like growth factor-1 (IGF-1) and hypoxia inducible factor-1α (HIF-1α), severe bouts of acute hypoxia and subsequent restoration of blood flow (hypoxia/reoxygenation, H/R) overwhelm compensatory mechanisms and cause neuroaxonal damage–identified as white matter lesions–in the brain. The neuroprotective role of IGF-1 in the pathogenesis of white matter injury in SCD has not been investigated; however, it is known that systemic IGF-1 is reduced in individuals with SCD. We hypothesized that IGF-1 supplementation may prevent H/R-induced white matter injury in SCD. Transgenic sickle mice homozygous for human hemoglobin S and exposed to H/R developed white matter injury identified by elevated expression of non-phosphorylated neurofilament H (SMI32) with a concomitant decrease in myelin basic protein (MBP) resulting in an increased SMI32/MBP ratio. H/R-challenge also lowered plasma and brain IGF-1 expression. Human recombinant IGF-1 prophylaxis significantly induced HIF-1α and averted H/R-induced white matter injury in the sickle mice compared to vehicle-treated mice. The expression of the IGF-1 binding proteins IGFBP-1 and IGFBP-3 was elevated in the IGF-1-treated brain tissue indicating their potential role in mediating neuroprotective HIF-1α signaling. This study provides proof-of-concept for IGF-1-mediated neuroprotection in SCD. Full article
(This article belongs to the Special Issue Sickle Cell Disease: Recent Advances in Pathophysiology and Therapy)
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8 pages, 570 KiB  
Case Report
Case Report of Myelodysplastic Syndrome in a Sickle-Cell Disease Patient Treated with Hydroxyurea and Literature Review
by Pagona Flevari, Ersi Voskaridou, Frédéric Galactéros, Giovanna Cannas, Gylna Loko, Laure Joseph, Pablo Bartolucci, Justine Gellen-Dautremer, Emmanuelle Bernit, Corine Charneau and Anoosha Habibi
Biomedicines 2022, 10(12), 3201; https://doi.org/10.3390/biomedicines10123201 - 09 Dec 2022
Cited by 1 | Viewed by 1165
Abstract
The safety profile of hydroxyurea (HU) in patients with sickle-cell disease (SCD) is relatively well known. However, despite the suspected association of HU with myeloid neoplasms in myeloproliferative neoplasms (MPN), and the publication of sporadic reports of myeloid malignancies in SCD patients treated [...] Read more.
The safety profile of hydroxyurea (HU) in patients with sickle-cell disease (SCD) is relatively well known. However, despite the suspected association of HU with myeloid neoplasms in myeloproliferative neoplasms (MPN), and the publication of sporadic reports of myeloid malignancies in SCD patients treated with HU, the possible excess risk imparted by HU in this population having an increasing life expectancy has failed to be demonstrated. Herein, we report one case of myelodysplastic syndrome emanating from the results on safety and effectiveness of HU on the largest European cohort of 1903 HU-treated adults and children who were followed-up prospectively in an observational setting over 10 years, accounting for a total exposure of 7309.5 patient-years. A comparison of this single case with previously published similar cases did not allow us to draw any significant conclusions due to the paucity of these events. Full article
(This article belongs to the Special Issue Sickle Cell Disease: Recent Advances in Pathophysiology and Therapy)
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