HELIOS first Short-Term Scientific Mission for standardising annotation of structural haemoglobinopathies
Written by Ms Maria Xeniphontos, Cyprus Institute of Neurology and Genetics, Cyprus Structural haemoglobinopathies are genetic disorders characterized by abnormalities in the structure of haemoglobin (Hb), 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 […]