In March 2023, the first HELIOS-funded Short-Term Scientific Mission (STSM) was completed. The project was carried out by HELIOS member Maria Xenophontos from the Cyprus Institute of Neurology, in collaboration with Prof. Celeste Bento at the University Hospital Coimbra in Portugal. Maria spent two weeks working with Prof. Bento on a project titled “Enhancing Structural Haemoglobin Variant Annotation and Data Quality.” Here are a few more details about our first STSM topic:
Structural haemoglobinopathies are genetic disorders characterized by abnormalities in the haemoglobin (Hb) structure, the oxygen-carrying protein found in red blood cells. These abnormalities result from pathogenic variants affecting the amino acid sequence of the globin chains causing alterations in the functional domains of the haemoglobin molecule or its overall structure. These conditions encompass a wide range of variants, including those that lead to an unstable haemoglobin tetramer or alter haemoglobin’s affinity for oxygen. Additionally, variants can cause erythrocyte deformation or haemolysis under certain conditions, such as sickling variants.
The terminology used to annotate structural haemoglobin variants often lacks clarity, as it combines the variant’s impact on protein properties with the mode of disease inheritance (e.g., Thalassemia dominant variants). Moreover, sometimes the same term is used to denote variants with varying effects. For instance, the term “unstable Hbs” may encompass variants that range from having no clinical significance to causing mild to severe haemolytic anaemia.
Read more about our first HELIOS STSM on our upcoming blog. Discover how HELIOS enabled Maria and Prof. Bento to enhance their collaboration on-site in Portugal and learn how their work will contribute to both research and medical understanding in the field of hemoglobinopathies.