Atypical Presentation of a Case of Hemoglobin E Trait with Gaucher’s Disease

Hemoglobin E heterozygotes (Hb AE) are asymptomatic and homozygotes (Hb EE) have a mild microcytic anemia . However, we had a 2 year old female child presenting with moderate pallor necessitating blood transfusions at 6 months to 1 year interval starting from eight months of age. Thorough clinical examination and investigative work-up revealed Hb E trait with Gaucher’s disease. To the best of our knowledge, we are reporting for the first time the association of Hb E trait with enzyme-study confirmed Gaucher’s disease. Earlier, there have been three case reports of Gaucher-like cells or Pseudo-Gaucher cells ( not Gaucher’s disease) associated with classic beta thalassemia major, Hb E disease (HbEE) and thalassemia intermedia [2],[3] . It is therefore desirable to understand whether the co-existence of a thalassemia-like syndrome and a storage disease like Gaucher’s disease could influence the clinical expression of each other.