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Molecular Advances in Hereditary Spherocytosis

This special issue belongs to the section “Molecular Genetics and Genomics“.

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 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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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

  • hereditary spherocytosis
  • erythrocyte membrane molecular defects
  • next-generation sequencing
  • molecular diagnosis
  • molecular mechanisms of disease

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Int. J. Mol. Sci. - ISSN 1422-0067