Mutations in the ANK1 gene can lead to hereditary spherocytosis, a condition characterized by the presence of spherical erythrocytes that are more prone to hemolysis. This condition results in anemia, jaundice, and splenomegaly. The loss of the typical biconcave shape in red blood cells due to defective Ankyrin 1 disrupts their ability to deform, leading to their premature destruction in the spleen.
