Iron Profile and Anemia in Gaucher Patients

Background Anemia associated with unexplained hyperferritinemia is a frequent finding in gaucher patients. Extensive gaucher manifestations including severe anemia and extreme splenomegaly can lead to a situation of iron-overload resembling hemochromatosis, and anemia. Objective of the study is to analyze hemoglobin level and iron profile in gaucher patients in comparison to normal population. Patients and Methods This is a case control study, comparing complete iron profile and haemoglobin level in 50 gaucher patients to 50 age and sex matched healthy controls. Fifty gaucher patients confirmed to have gaucher disease by β glucocerebrosidase deficiency were compared to 50 age and gender matched healthy controls. Complete blood count, serum iron and ferritin were analysed. Results Ferritin levels were significantly higher in gaucher patients (ranging from10 to 460 μg/L) with mean 184.30, than controls (P = 0.003). Moreover serum iron was significantly lower in gaucher patients than controls (P = 0.037). Conclusion Hyperferetinemia is a universal laboratory finding in GD. Serum ferritin does not appear to be a useful biomarker of disease severity in GD, but can be used as a biomarker of response to treatment.