Thrombocytopenia and Unexplained Splenomegaly; The Role of Hematologists in the Early Diagnosis of Gaucher Disease

Hematologists should consider the diagnosis of Gaucher disease; when they look for the cause of unexplained splenomegaly and thrombocytopenia. In countries which consanguineous marriage is prevalent, autosomal recessive disorders like Gaucher Disease may be seen frequently. The diagnosis can be done today by a simple blood test, so liver biopsy is not necessary. BM aspiration and biopsy may be needed for exclusion of other diagnoses and can be deferred until report of enzyme assay. Genetic study is needed for definite diagnosis.