SLC4A1

The gene SLC4A1 is associated with the Diego blood group system. This gene encodes the band 3 protein, which is found on the surface of red blood cells. The band 3 protein is crucial for transporting carbon dioxide in the blood and is also involved in the function of the enzyme carbonic anhydrase. Mutations in SLC4A1 can lead to conditions like hereditary ovalocytosis, where red blood cells have an oval shape. Additionally, certain mutations result in the production of Diego antigens, which determine an individual's blood type within the Diego system. The frequency of the Di^a antigen varies among different populations, being more common in South American Indians than in people of Chinese or Japanese descent. Incompatibility between a mother and fetus regarding Diego antigens can cause erythroblastosis fetalis, a condition where the infant's red blood cells are destroyed by maternal antibodies.12