From mutation to pathophysiology in sicklecell disease

Codon 6 of the b-globin gene mutates from GAG to GTG. This changes the 6^th aminoacid of the b-globin chain from Glu to Val. This change induces polymerisation of the hemoglobin tetramers and formation of sickle cells at a low oxygenlevel, which generate infarcts in the capillairy veins and hemolysis.