Clinical manifestation of β-thalassemia/hemoglobin E disease

Purpose: To review the clinical manifestation and changes in hematologic parameters 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 clinic at Siriraj Hospital between 1957 and 1982. Results: A wide spectrum of clinical phenotypes has been observed. Most patients show clinical symptoms by 10 years of age. The majority of patients survive 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%) and cholecystitis (5.1%). Respiratory tract infections were found in 21.8% of patients and cardiovascular complications, including congestive heart failure, occurred in 11.9%. Other less common symptoms and complications included bone pain, chronic leg ulcers, paraplegia and hypertension-associated convulsions, and cerebral hemorrhage after multiple blood transfusion. Patients usually die between 20 to 40 years of age (67%), mainly from congestive heart failure and septicemia. Septicemia was often caused by Gramnegative bacteria. Conclusion: These clinical features observed in patients with beta -thalassemia/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 -thalassemia/Hb E should provide important information for the better management of these patients.