We present a child who has sideroblastic anemia and hypoparathyroidism as a result of a previously unreported mutation in the IARS2 gene.<h4>Case presentation</h4>A 14-year-old girl who had been anemic for 12 years was diagnosed with pure red cell aplasia (hemoglobin 42 g/L, reference range 110-160) at the age of 2. This evidence concerns the gene IARS2 and pure red-cell aplasia.