Autosomalna recesywna niedokrwistość syderoblastyczna o początku w wieku dorosłym

A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (<i>GLRX5</i>) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.