In our analysis, an unexpected finding was the high frequency (50%; 7 of 14 patients analyzed) of children and young adults with bone marrow failure of unknown etiology who carried mutations in ALDH2 and ADH5. We therefore recommend genotyping for these mutations as part of diagnostic investigations in future management of IBMFS patients of East Asian ethnicity. The gene discussed is ALDH2; the disease is Bone marrow hypocellularity.