Dear Colleagues,

Hemoglobin’s proper structure allows its optimal function in oxygen homeostasis and buffering of acidic metabolic waste products (oxygen (O₂) transport, interactions with carbon dioxide (CO₂), carbon monoxide (CO), and nitric oxide (NO)). Hemoglobin production is finely regulated through a complex developmental control of the α-like and β-like globin gene clusters.

Structural modifications of the molecular constituents of hemoglobin alter structure–function relations in many cases, resulting in diseases such as thalassemias and sickle cell disease (haemoglobinopathies). In this process, specific chaperones and other modifiers are also involved, at either primary or secondary levels.

The most well-studied hemoglobin disorders are thalassemias (alpha and beta) which consist of the most frequent genetic diseases worldwide. In most cases, pathogenic variations of either alpha or beta globin genes, in both alleles, are identified as the underlying pathogenic cause. Although considered monogenic, in many cases, phenotypic variability is observed in patients with identical underlying genetic variations. During recent decades, intense research work has shed light not only on the primarily causative underlying variants but also on other modifying factors, directly or indirectly affecting the function of globin genes and their products (induction of gamma globin genes, repression of alpha globin genes and proteome effectiveness, to name a few).

Gathered information, apart from serving as an excellent paradigm of developmental regulation, also had a huge impact on disease prevention as well as therapeutic options worldwide, allowing more well-informed choices for couples at risk, in addition to better survival and QoL for patients. Consequently, haemoglobinopathies are practically converted from a life-threatening condition to a chronic, or recently, radically cured, disease.

The current Special Issue aims to comprehensively overview current information about the molecular basis of haemoglobinopathies and how this information allows numerous applications in both prenatal approaches and patient treatment.

Indicatively, topics may include information about:

1. Gene structure and developmental control of the α-like and β-like globin gene clusters.
2. An updated overview of pathogenic variations (structural variants included).
3. Modifiers and pathways involved.
4. Overview of molecular methodologies available.
5. Databases and prediction tools for validation of novel variants.
6. Prenatal choices of couples at risk.
7. Omics.
8. GWAS and similar high-throughput approaches.
9. Epigenetics.
10. Therapeutic approaches based on gene therapy or gene regulation tools.
11. Therapeutic approaches based on modification of, i.e., growth factor signaling pathways.

Dr. Effrossyni Boutou
Dr. Coralea Stephanou
Guest Editors

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• hemoglobin
• haemoglobinopathies
• structural modification
• modifiers and pathways
• omics
• epigenetics
• structural variant