Статья: IS GENE THERAPY THE ULTIMATE SOLUTION FOR SICKLE CELL DISEASE?

Introduction. Sickle cell disease (SCD) is a complex genetic disorder that results from a point mutation in the gene encoding the beta-globin subunit of hemoglobin. This mutation leads to the substitution of valine for glutamic acid at the sixth position of the beta-globin chain, resulting in the formation of abnormal hemoglobin known as hemoglobin S (HbS). HbS molecules can polymerize and cause red blood cells to become rigid and assume a sickle shape. These sickled red blood cells have reduced flexibility and increased adhesion to endothelial cells, promoting their adherence to blood vessel walls and leading to vaso-occlusion