Rare Case of Hemolytic Anemia and Distal Renal Tubular Acidosis in an adult due to Homozygous Mutation.

In this case study, we report an adult patient presenting with generalized weakness, marked anemia, spherocytosis, and no features of thalassemia. The patient was treated for suspicion of autoimmune hemolytic anemia but was recalcitrant to treatment. Genetic analysis revealed the patient to be homozygous for c.2573C>A (p.Ala858Asp). Distal renal tubular acidosis (dRTA) can be caused by mutations in , which encodes the Cl/HCO exchanger of the renal type A intercalated cell, kidney AE1. variants have been reported in dRTA patients from North America, Europe, and Southeast Asia. In some rare instances, dRTA can present with hemolytic anemia resulting in marked anemia that is not responsive to standard interventions. This report identifies an autosomal recessive inheritance pattern for variants in a patient presenting with dRTA and hemolytic anemia.