Mutations of the Cl2/HCO3·2 exchanger AE1, encoded by SLC4A1 which is expressed in red blood cells and in type A intercalated cells of the renal collecting tubule, may be responsible for distal renal tubular acidosis (dRTA), with or without haemolytic anemia. Here, SLC4A1 is linked to distal renal tubular acidosis.