GALE and anemia (phenotype): In 2019, Seo et al. reported six members of a consanguineous family carrying the GALE variant p.Arg51Trp in homozygosis, all affected by anemia, febrile neutropenia, and severe thrombocytopenia, associating increased hemorrhagic tendency, without symptoms of systemic galactosemia [53], providing the first evidence of GALE variants and hematologic alterations.