Inherited missense mutations in ABCB7 have been linked to hereditary X-linked sideroblastic anaemia and ataxia (OMIM #301310)19, and the mechanistic role of ABCB7 in refractory anaemia with ring sideroblasts (RARS) has been demonstrated20. Here, ABCB7 is linked to myelodysplastic syndrome with ring sideroblasts.