Advanced Therapy for Human Haemoglobinopathy
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".
Deadline for manuscript submissions: 30 January 2026 | Viewed by 16
Special Issue Editors
Interests: human haemoglobinopathy; developmental control of globin gene expression; human genomics and rare disease medicine
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Although formally, the most common disorders, i.e. the b Thalassemia and the Sickle Cell Syndromes, are due to mutation in the same b globin gene, the molecular pathophysiology differs fundamentally because one, the thalassemia syndrome (both a and b), were mainly a pathology of the bone marrow with secondary effects system-wide, while the other, SCD were mainly a systemic pathology due to immuno-inflammatory consequences of the anomalous erythrocyte-leukocyte/endothelial interaction leading to cellular adhesion and vaso-occlusive sickling (VOE). Both were subject to post-natal developmental biology, as best described by Powars et al. (..), with reference to SCD describing it as a chronic hemolytic anaemia with acute episodes leading to long-term organ failure. Nevertheless, some therapeutics can be shared, while others, likely, cannot.
We planned to invite contributions to the IJMS-SI: Advanced Therapy in Human Haemoglobinopathy, organised into six main sections, each comprising 1–2 manuscripts or possibly more in certain sections, as follows.
An introductory overview written by us may cover as succinctly as possible the molecular pathophysiology encompassing therapeutic/drug targets. Then;
- Molecular Genetics and Population Genomics; This section will explore the genetic landscape of hemoglobinopathies across diverse populations, with particular emphasis on mutation spectrum, gene regulation, and genotype-phenotype correlations that may lead to identification of new targets and may include
(a) Population-scale genomic studies revealing novel or founder mutations in globin genes and regulatory elements.
(b) Insights into cis- and trans-acting modifiers, including enhancers, silencers, and non-coding RNAs that influence globin gene expression and disease severity.
(c) Haplotyping and ancestral origin analyses, particularly from Mediterranean, African, and Asian populations, contributing to disease risk and therapeutic response.
(d) Multi-omic integration (genomics, transcriptomics, epigenomics) to identify regulatory networks and rare variants associated with disease modifiers.
(e) Application of high-throughput sequencing and digital molecular diagnostics for population screening, carrier detection, and personalized therapeutic strategies. - Gene Therapy/Editing; there are two molecules approved to enter clinical practice, with a third possibly to follow in due course. We will connect with primary workers in the field to solicit contributions, particularly regarding progress in CRISPR methodology. Additionally, we may include an article on the objective quantification of the development pathophysiology and response to therapy in Thalassemia. There may be literature or data, or both, about Sickle Cell Disease.
- Stem Cell Therapeutics, or Stem Cell Transplantation, or even Xenotransplantation.
(a) Despite progress, some patients fail to respond entirely and may continue to require blood transfusions or experience VOE. Many patients progress to end-stage organ dysfunction, liver, heart and kidney. Cost-effectiveness remained troublesome in many countries.
(b) Emerging insights into KLF1 and BCL as therapeutic modulators of erythropoiesis and its implications in beta-thalassemia and sickle cell disease may help outcomes. Contributions about other competing or cooperative loci shall be welcome. - Biotherapeutics may encompass immunotherapies or Heme/haemoglobin scavengers, such as Hemopexin and haptoglobin, as well as other pathways in immune-metabolism and inflammation that underlie the conditions and increase the risk of fatal sepsis.
- Pharmacaeuticals, among which;
(a) New chelators/regulators of iron traffic
(b) New targets among immune-modulatory pathways and Hemin-induced sepsis
(c) SpaceOmix approaches to reveal novel pathways relevant to anaemia in astronauts and their applicability to hemoglobinopathies in extreme environments
(d) Hb F Inducers and Erythropoiesis Stimulating Agents
(e) Anti-Sickling Agents. - The matter of a thalassaemia therapies may be covered in a separate section or as appropriate, along with the other sections as above, in the case of interactions.
For this Special Issue, we aim to compile current knowledge and identify gaps in molecular pathophysiology that may be further developed into potential targets of innovative therapeutic modalities for hemoglobinopathies and to highlight key priority areas for future collaborative research that could include large-scale networks such as INHERENT and other professional and academic organisations. Some of these have been recently reviewed in a special issue of the IJMS about Genetic Modifiers.
We welcome original research articles, reviews, opinion papers, perspectives, and communications on molecular pathophysiology, advanced therapeutics, and associated phenotypes in hemoglobinopathies, and encourage the inclusion of illustrations that clarify concepts and pathways.
Prof. Dr. Alex Felice
Prof. Dr. Joseph Borg
Guest Editors
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Keywords
- haemoglobin (Hb)
- hemoglobinopathy (Hbpy)
- globin
- thalassaemia
- sickle cell
- stem cell
- gene therapy/editing
- therapeutics
- HbF inducing agents
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