Clinical manifestation of beta-thalassemia/hemoglobin E disease

Purpose: To review the clinical manifestation and changes in hematologic pa rameters of patients with beta -thalassemia/hemoglobin (Hb) E. Materials and Methods: Retrospective analysis of the clinical manifestation of 378 patients with beta -thalassemia/Hb E attending the hematology clini c at Siriraj Hospital between 1957 and 1982. Results: A wide spectrum of clinical phenotypes has been observed. Most pat ients show clinical symptoms by 10 years of age. The majority of patients s urvive with or without occasional transfusion. Splenectomy was performed in 26.5% of patients. Patients come to the hospital because of anemia, fever, abdominal mass, and jaundice. Gastrointestinal tract disturbances are the most common presenting symptoms (34.6%), especially abdominal pain (10%) an d cholecystitis (5.1%). Respiratory tract infections were found in 21.8% of patients and cardiovascular complications, including congestive heart fail ure, occurred in 11.9%. Other less common symptoms and complications includ ed bone pain, chronic leg ulcers, paraplegia and hypertension-associated co nvulsions, and cerebral hemorrhage after multiple blood transfusion. Patien ts usually die between 20 to 40 years of age (67%), mainly from congestive heart failure and septicemia. Septicemia was often caused by Gramnegative b acteria. Conclusion: These clinical features observed in patients with beta -thalass emia/Hb E are probably the results of chronic anemia and iron overload. The study of the life history and clinical courses of patients with beta -thal assemia/Hb E should provide important information for the better management of these patients.