Gaucher disease is an autosomal recessive lysosomal storage disorder caused by pathogenic variants in the GBA1 gene on chromosome 1q21, resulting in reduced or absent activity of the enzyme glucocerebrosidase. Consequently, glucosylceramide accumulates primarily in macrophages, leading to the formation of Gaucher cells. The disease most commonly presents with anemia, thrombocytopenia, bleeding tendency, hepatosplenomegaly, fatigue, and skeletal involvement. Bone pathology includes decreased mineral density, bone marrow infiltration, infarction, and fibrosis, all of which contribute to impaired hematopoiesis and cytopenias.

From a hematological standpoint, bone marrow aspiration may reveal Gaucher cells with the typical “wrinkled tissue paper” cytoplasm; however, this finding is not pathognomonic and may be seen in other lysosomal storage disorders. Definitive diagnosis therefore requires demonstration of deficient glucocerebrosidase activity or identification of pathogenic GBA1 variants through molecular analysis. In clinical practice, hematological parameters remain essential both for diagnosis and longitudinal monitoring. Complete blood counts provide information on cytopenias and treatment response, while coagulation studies and platelet function tests assist in evaluating bleeding risk. Biomarkers such as chitotriosidase and glucosylsphingosine, together with organomegaly assessment, are increasingly employed in follow-up.

Historically, hematopoietic stem cell transplantation was considered a potential curative approach but was limited by high morbidity, mortality, and donor-related challenges. With the advent and efficacy of enzyme replacement therapy and substrate reduction therapy, hematopoietic stem cell transplantation is now reserved only for rare, severe cases without access to standard treatment.

In summary, Gaucher disease is a multisystemic disorder with prominent hematological manifestations. Early recognition, accurate diagnosis, and systematic monitoring underscore the central role of hematology in the comprehensive management of this condition.