It is an autosomal recessive disease caused by bi-allelic mutations in the glucocerebrosidase gene (GBA1), leading to deficiency in the enzymatic activity of the β-glucocerebrosidase and, therefore, to the lysosomal accumulation of its substrate glucosylceramide; this occurs most prominently in macrophages in the visceral tissues liver, spleen, and bone marrow, inducing a pleiotropic array of signs and symptoms, including hepatosplenomegaly, pancytopenia, and bone complications (such as bone crises, avascular necrosis, osteoporosis, and pathologic fractures) [1,2]. The gene discussed is GBA1; the disease is Pancytopenia.