Genetic and Cellular Mechanisms in Sickle Cell Disease

Dear Colleagues,

Sickle cell disease (SCD) afflicts millions of people worldwide. Complications vary and arise due to complex pathological pathways 'downstream', to a point mutation in the HBB gene. Over the past seven decades, scientists have characterized three main pathophysiological processes (HbS polymerization, vaso-occlusion and hemolysis-mediated endothelial dysfunction) that drive the clinical course of the disease. Recently, a fourth route has emerged: sterile inflammation. Over time, this complex pathophysiology can lead to clinical acute events and chronic complications, such as priapism, pulmonary hypertension, acute chest syndrome, osteonecrosis, leg ulcers, stroke and, ultimately, the risk of cumulative organ damage with a reduced lifespan of SCD individuals. Despite an increased understanding of SCD pathophysiology, only a limited number of disease-modifying agents that target it exist, and even fewer have been approved. Thus, this Special Issue will cover topics relating,  but not be limited, to genetic modulators to establish disease prognoses and differential responses to hydroxycarbamide treatment; genetic, redox and inflammatory mechanisms involved in cellular adaptions in response to the presence of hemoglobin S; and any other fields within the scope of SCD pathophysiology and its therapeutic alternatives. As a reminder, you are encouraged to apply or expand the understanding of SCD pathophysiology in your studies, seeking to improve the quality of life of SCD individuals.

Prof. Dr. Danilo Grünig Humberto Da Silva
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. Genes 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.

• genetic modulators
• redox homeostasis
• inflammation
• disease-modifying agents