Iron overload in hereditary spherocytosis: Are genetic factors the cause?

Abstract

Non-transfusional iron overload (IOL) in hereditary spherocytosis (HS) is poorly documented compared with other red blood cell disorders. We studied 13 HS adults with confirmed IOL to identify potential genetic factors. Using a next-generation sequencing panel of 46 genes related to HS, anaemia and iron metabolism, we found no association between IOL and the genes involved in HS nor the HFE:p.(Cys282Tyr) variant responsible for hereditary haemochromatosis. However, potential genetic factors contributing to IOL were identified in some patients, including variants in HJV (haemojuvelin), SLC40A1 (ferroportin), PKLR (pyruvate kinase), ABCG5 and ABCB8, highlighting the need for larger studies.