Thrombocytopenia and GBA gene mutation in a patient with adult type 1 Gaucher disease

A 38-year-old female patient was diagnosed with anemia for 3 years. Medical examination showed slight splenomegaly (250 x 62 mm), thrombocytopenia (platelets 51 x 10(9)/L), anemia (Hb levels 107 g/L), and beta-glucocerebrosidase activity (GBA) in leukocytes was lower than normal. Microscopic findings of bone marrow smear demonstrated that Gaucher cells in bone marrow and periodic acid-Schiff staining of them were positive. Sequencing of GBA genomic and cDNA identified one novel homozygous mutation, c.484A>G (p. Met162Val). This case suggests that we should pay attention to adult Gaucher disease as a differential diagnosis for cryptogenic thrombocytopenia and one novel homozygous mutation in GBA genewas reported for the first time. The novel mutation in homozygosity is apparently associated with mild, non-neuronopathic type 1 disease which is relatively uncommon in Asian populations.