RUNX1 mutation in a patient with myelodysplastic syndrome and decreased erythrocyte expression of blood group A antigen.
Akira HayakawaRie SanoYoichiro TakahashiRieko KuboMegumi HaradaMasato OmataAkihiko YokohamaHiroshi HandaJunichi TsukadaHaruo TakeshitaHatsue TsuneyamaKenichi OgasawaraYoshihiko KominatoPublished in: Transfusion (2019)
Because the RUNX1 mutation encoded an abnormally elongated protein without a transactivation domain which could act as dominant negative inhibitor, this frame-shift mutation in RUNX1 may be a genetic candidate contributing to A-antigen loss on RBCs.