Abstract
Gaucher disease (GD) is an autosomal recessive disease characterized by the buildup of glucocerebrosides in macrophages, resulting in the formation of “Gaucher cells.” These cells predominantly infiltrate the liver, spleen, and bone marrow leading to hepatosplenomegaly, cytopenia, and bone pain. Anemia in GD is typically considered to result from non-hemolytic processes. Although rare, a higher rate of hemolytic anemia of the autoimmune type has been reported in GD than in the general population. The literature on non-immune hemolytic anemia in GD is scarce. We review the literature on hemolytic anemia in GD and report on a case of non-immune hemolytic anemia secondary to GD. We believe this is the first description of a patient with confirmed GD and symptomatic non-immune hemolytic anemia that responded to GD-specific treatment.
Highlights
Gaucher disease (GD) is an autosomal recessive metabolic disease caused by pathogenic variants in the GBA gene, resulting in decreased activity of the enzyme glucocerebrosidase
It is distinguished as autoimmune hemolytic anemia (AIHA) and non-immune hemolytic anemia (NIHA); AIHA refers to red blood cells (RBC) destruction by antibodies directed against erythrocyte antigens and is diagnosed by a positive Coombs test.[14]
Our report presents a patient with significant anemia but mild thrombocytopenia, not consistent with severe GD.[4,5]
Summary
Gaucher disease (GD) is an autosomal recessive metabolic disease caused by pathogenic variants in the GBA gene, resulting in decreased activity of the enzyme glucocerebrosidase. A 35-year-old male of Ashkenazi Jewish descent presented to the Hematology Unit after a routine blood test revealed anemia, which appeared to be caused by a hemolytic process His blood tests revealed a Hb level of 9.7 g/dL (normal range: 13–17), elevated reticulocyte count of 1.6×103/mL (normal range: 0.03–0.09), low haptoglobin (
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