Molecular Advances in Hereditary Spherocytosis
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: 20 July 2025
Special Issue Editors
Interests: erythrocyte membrane; oxidative stress; hereditary spherocytosis; hemodialysis; biomaterials biocompatibility
Special Issues, Collections and Topics in MDPI journals
2. Associate Laboratory i4HB, Institute for Health and Bioeconomy, Faculdade de Farmácia, Universidade do Porto, Porto, Portugal
Interests: chronic kidney disease; CKD anemia; cardiovascular disease risk; anemia; inflammation
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Special Issue Information
Dear Colleagues,
Congenital hemolytic anemia caused by erythrocyte membrane defects is a rare and heterogeneous group of disorders, among which Hereditary Spherocytosis (HS) is the most prevalent, affecting 1/2000 to 1/5000 individuals worldwide. Significant progress has been made in understanding the genetic basis of HS and recent molecular advances offer improved insights into the molecular cause, diagnosis, and therapeutic management of HS.
While traditional diagnosis approaches are still used, new techniques offer improved quality and reduced time for diagnosis. Integrating both further optimizes an accurate HS diagnosis, which is important in establishing prognosis and may enable personalized clinical management.
We are pleased to invite you to contribute to this Special Issue, hoping to gather the most recent knowledge on HS.
This Special Issue aims to highlight the most recent advances in clinical, laboratory, and genetic data for accurate HS diagnosis and patient management; evolving from symptom-based therapeutic interventions to molecular targeted therapies in order to mitigate the disease progression and complications seems to be the way forward.
In this Special Issue, original research articles and reviews are welcome, hoping to gather a collection of comprehensive works focusing on state-of-the-art molecular approaches in favor of HS knowledge.
We look forward to receiving your contributions.
Dr. Susana Rocha
Dr. Alice Santos-Silva
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 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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.
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Keywords
- hereditary spherocytosis
- erythrocyte membrane molecular defects
- next-generation sequencing
- molecular diagnosis
- molecular mechanisms of disease
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