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Abstract Gaucher’s disease is the most common type of lysosomal storage disorder that comprises a wide range of clinical findings in childhood to an asymptomatic type throughout life. Enzyme therapy is the most effective available treatment in pregnancy. There are no reports on the prevalence of Gaucher's disease in pregnancy in Iran. In this paper a 21-year-old term primigravida woman with anemia is reported who was diagnosed with Gaucher's disease. She referred with complaints of labor onset. Hepatomegaly and massive splenomegaly were seen in survey of anemia and thrombocytopenia. Finally, vaginal delivery without any complications was conducted. Suitable prenatal care can lead to early diagnosis of the disease. Warning signs of pregnant woman should be carefully investigated to have an improved pregnancy outcome.

Keywords: Gaucher\'s disease, pregnancy, pregnancy outcome

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