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Sickle Cell Disease: From Pathophysiology to Advances in Treatment
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Sickle Cell Disease: From Pathophysiology to Advances in Treatment

A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Pediatric Hematology & Oncology".

Deadline for manuscript submissions: closed (31 March 2026) | Viewed by 898

Special Issue Editors

Dr. Yves D. Pastore

E-Mail Website
Guest Editor
1. Division of Pediatric Hematology-Oncology, CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada
2. CHU Sainte-Justine Azrieli Research Center, Montreal, QC H3T 1C5, Canada
3. Department of Pediatrics, Faculty of Medicine, Université de Montréal, Montreal, QC H3T 1J4, Canada
Interests: sickle cell disease; red blood cell disorders; cytopenia; marrow failure
Dr. Thomas Pincez

E-Mail Website
Guest Editor
1. Division of Pediatric Hematology-Oncology, CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada
2. CHU Sainte-Justine Azrieli Research Center, Montreal, QC H3T 1C5, Canada
3. Department of Pediatrics, Faculty of Medicine, Université de Montréal, Montreal, QC H3T 1J4, Canada
Interests: sickle cell disease; hemoglobin disease; cytopenia

Special Issue Information

Dear Colleagues,

Sickle cell disease is a severe inherited blood disorder affecting millions of individuals world-wide, with an estimated number of more than half a million new births every year. While its prevalence is the highest in sub-Saharan Africa, SCD is increasingly being diagnosed in all countries. Of particular importance is the fact that SCD is now the most frequently diagnosed disorder in countries that have included its search in newborn screening programs (NSPs).

Our understanding of SCD pathophysiology has been growing in recent years. In addition, while therapeutic options remain limited, recent developments offer hope for further drug discoveries and new therapeutics venues, including cures through gene therapy and stem cell transplantation.

We encourage submissions on the following topics:

Epidemiology, current understanding of SCD pathophysiology, hemoglobin regulation and role of fetal hemoglobin, acute and chronic organ complications, and therapeutic approaches.

Dr. Yves D. Pastore
Dr. Thomas Pincez
Guest Editors

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 250 words) can be sent to the Editorial Office for assessment.

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. Children 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 2400 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

  • red blood cell disease
  • hemoglobinopathy
  • sickle cell disease
  • gene therapy
  • hydroxyurea
  • blood transfusion
  • cell therapy

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Published Papers (2 papers)

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Review

13 pages, 292 KB  
Review
Should Sickle Cell Disease Be Considered a Cancer Predisposition Syndrome?
by Elise Casadessus, Yves Pastore and Thomas Pincez
Children 2026, 13(5), 683; https://doi.org/10.3390/children13050683 (registering DOI) - 16 May 2026
Viewed by 171
Abstract
Among the many complications that can occur in individuals with sickle cell disease (SCD), several studies have suspected an increased risk of cancer. While the effect of SCD on solid tumors remains unclear, multiple studies support a higher incidence of leukemia, especially acute [...] Read more.
Among the many complications that can occur in individuals with sickle cell disease (SCD), several studies have suspected an increased risk of cancer. While the effect of SCD on solid tumors remains unclear, multiple studies support a higher incidence of leukemia, especially acute myeloid leukemia (AML). This risk seems to appear in childhood and persist throughout life. Based on these features, should SCD be considered a cancer predisposition syndrome? Here, we explore this question by comparing the characteristics of SCD-associated AML and cancer predisposition syndromes. We show that some features are similar. As in cancer predisposition syndrome, increased cancer risk in SCD appears to be restricted to a defined type of malignancy. SCD-associated AML also has molecular specificities reminiscent of therapy-related AML. Many of the mechanisms contributing to SCD-associated leukemogenesis have been reported in cancer predisposition syndromes, including ineffective erythropoiesis, increased cell renewal, chronic inflammation, and oxidative stress. Nevertheless, SCD presents a unique combination of factors, and their magnitude may greatly vary from one individual to another. Strikingly, the relative risk of cancer in SCD is much lower than most cancer predisposition syndromes and closer to those conferred by common variations. This is a major difference, and indeed, the absolute risk of malignancy in individuals with SCD appears to be low. Moreover, SCD has great clinical variability, and the factors influencing AML risk are unclear. In sum, SCD has many specificities compared to cancer predisposition syndromes that should be considered and investigated. Clinicians should be aware of the increased risk of AML in patients’ management and counseling. Full article
(This article belongs to the Special Issue Sickle Cell Disease: From Pathophysiology to Advances in Treatment)
18 pages, 782 KB  
Review
Acute Chest Syndrome in Children with Sickle Cell Disease: A Narrative Review
by Veronica Ramirez and Jules Mercier-Ross
Children 2026, 13(5), 670; https://doi.org/10.3390/children13050670 (registering DOI) - 12 May 2026
Viewed by 331
Abstract
Acute chest syndrome (ACS) is a common pulmonary complication in children with sickle cell disease, defined by a new pulmonary infiltrate on imaging accompanied by fever and/or respiratory symptoms. ACS pathophysiology is multifactorial and incompletely understood, involving vaso-occlusion, pulmonary infarction, inflammation, hypoventilation, and [...] Read more.
Acute chest syndrome (ACS) is a common pulmonary complication in children with sickle cell disease, defined by a new pulmonary infiltrate on imaging accompanied by fever and/or respiratory symptoms. ACS pathophysiology is multifactorial and incompletely understood, involving vaso-occlusion, pulmonary infarction, inflammation, hypoventilation, and infection—the latter being a frequent trigger in children. While most pediatric cases are mild, ACS can be life-threatening and requires prompt diagnosis and management to prevent progression into respiratory failure. Mild cases are managed with pain control, IV hydration, empiric antibiotics, incentive spirometry and supplemental oxygen when needed. More severe cases may require simple or exchange transfusion to reduce hemoglobin S levels and limit further vaso-occlusion. ACS is associated with neurologic events and long-term pulmonary complications, making prevention a clinical priority. Disease-modifying therapies include hydroxyurea and chronic transfusion. This review summarizes current evidence on the pathophysiology, risk factors, clinical presentation, diagnosis, acute management and preventative therapies for ACS in children. Full article
(This article belongs to the Special Issue Sickle Cell Disease: From Pathophysiology to Advances in Treatment)
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