Beta-Thalassemia major with Gaucher disease

Introduction and importance: beta-thalassemia major is an inherited disorder resulting from mutation or deletion of the beta-globin gene, causing a reduced beta-globin chain of hemoglobin. Gaucher's disease (GD) is a type of lysosomal storage disorder resulting from the deficiency of the glucocerebrosidase enzyme or storage of gluco-cerebrosides in the tissues. Coexistence of these two entities is very rare. The importance of reporting this case is that both medical conditions have overlapping clinical manifestations and the diagnosis of one will be mistaken for the other. Case presentation: A 12-year-old child was brought to our pediatric department with complaints of abdominal distension, anemia, hepatosplenomegaly, and iron overload due to frequent blood transfusions. Initially, anemia and iron overload were treated with blood transfusion and iron chelation therapy along with management of congestive heart failure (CHF) followed by splenectomy. The patient's follow-up result was favorable. Clinical discussion: beta-thalassemia major is a genetic disorder that is prevalent in South Asian nations. GD, or lysosomal storage disease, is a rare medical condition requiring enzyme replacement therapy. Coexistence of both disorders is mostly missed where genetic screening is not available. beta-thalassemia major is blood transfusion (BT) dependent, and the frequency of BT directly justifies the decision for splenectomy due to splenomegaly and iron overload. Conclusion: Our report highlights the similarities of Beta thalassemia major and GD due to overlapping clinical manifestations, therefore this is wise to do all relevant clinical investigations for the purpose of definite diagnosis and proper treatment of both medical conditions.