High risk screening for Gaucher disease in patients with splenomegaly and/or thrombocytopenia in China: 55 cases identified.

•We established a high risk screening program for Gaucher disease in patients with splenomegaly and/or thrombocytopenia in China.•55 (7.0%) cases were identified. The sensitivity and specificity of the program were 98.2% and 89.5%, respectively.•3. The confirmed GD patients presented splenomegaly (100%), hepatomegaly (70.9%), thrombocytopenia(83.6%), indicating the patients with unexplained splenomegaly are the most suitable candidates to be screened.