Special Issue "Living with a Hereditary Anemia - Diagnosis and Clinical Management"

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Hematology".

Deadline for manuscript submissions: 28 April 2023 | Viewed by 245

Special Issue Editors

Department of Life Sciences and Biotechnology, Section of Biochemistry and Molecular Biology, Ferrara, Italy
Interests: OMICS analyses; transcriptional regulation of globin genes; gene therapy; induction of fetal hemoglobin, microRNAs, molecular diagnosis
Special Issues, Collections and Topics in MDPI journals
Biomedical Research Foundation, Academy of Athens (BRFAA), Basic Research Center, Athens, Greece
Interests: transcriptional regulation; transcription factors, omics analyses; signal transducers and activators of transcription (STATs); hemoglobinopathies

Special Issue Information

Dear Colleagues,

Hereditary anemias are genetically and clinically highly variable diseases (constituted by mild, moderate, or severe forms) and represent a major health problem worldwide, causing childhood mortality and morbidity, especially in developing countries. Even though for many hereditary anemias no definitive cure is available, supportive treatments have significantly contributed to the improvement of the quality of life of affected people (including an increased survival even in the most severe forms of the diseases).

Anemia may be classified as impaired red blood cell (RBC) production or increased RBC destruction (hemolytic anemias). The underlying cause of hereditary anemia may be due to hemoglobinopathies (for instance thalassemias and sickle-cell disease), defects of the red blood cell membrane (for instance hereditary spherocytosis and hereditary elliptocytosis), enzyme deficiencies (for instance glucose-6-phosphate dehydrogenase, the most common cause of acute hemolytic anemia), or inherited bone marrow failure syndromes (such as Fanconi anemia, Diamond–Blackfan anemia, and Shwachman–Diamond syndrome).

The Special Issue will focus on tools available to the scientific community and patients for up-to-date molecular diagnosis and therapeutic approaches for hereditary anemias, including DNA/RNA-based approaches, and cellular and gene therapies. Articles describing clinical and preclinical research will be also considered.

The main topics include, but are not limited to:

  • Hereditary anemias
  • Molecular basis and genetics/epigenetics of hereditary anemias
  • Thalassemia
  • Sickle-cell disease
  • Fanconi anemia
  • Hereditary spherocytosis
  • Diamond–Blackfan anemia
  • Swachman–Diamond syndromes
  • OMICS analyses
  • Defects of red blood cell membrane
  • Erythropoiesis and abnormal erythropoiesis
  • Regulation of iron metabolism
  • MicroRNAs
  • Long non-coding RNAs
  • In vitro experimental model systems
  • In vivo experimental model systems, including transgenic animals
  • Molecular diagnosis
  • Prenatal diagnosis
  • Therapeutic treatments of hereditary anemias
  • Gene therapy
  • Induction of Fetal Hemoglobin
  • Clinical trials

Prof. Dr. Roberto Gambari
Dr. Eleni Katsantoni
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. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly 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.


  • hereditary anemias
  • OMICS analyses
  • non-coding RNAs
  • in vitro experimental model systems
  • molecular diagnosis
  • prenatal diagnosis
  • therapeutic treatments of hereditary anemias
  • gene therapy
  • clinical trials

Published Papers

This special issue is now open for submission.
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