Thalassemia Standards of Care

INTRODUCTION
Thalassemia major is a rare, complex disease. It is unrealistic to expect that a practitioner with a small number of patients with thalassemia could become expert in the care of patients with this disease. All patients should be referred to Comprehensive Thalassemia Centers for evaluation and development of comprehensive management plans. A similar model of care has been successful for patients with a more common hemoglobinopathy: sickle cell anemia. The following guidelines were developed as a consequence of the Thalassemia Providers Conference held in Pasadena California on June 9, 2000. These guidelines primarily address the management of thalassemia patients who are being transfused. There are other approaches for the management of thalassemia intermedia syndromes, which do not include regular transfusions.

Transfusion is the mainstay of the care of individuals with thalassemia major. The purpose of transfusion is twofold; to improve the anemia and to suppress the ineffective erythropoiesis. Chronic transfusions prevent most of the serious growth, skeletal, and neurological complications of thalassemia major. However, once started, the transfusion-related complications become a major source of morbidity. Standards must be developed and maintained to ensure a safe and rational approach to the use of blood transfusions in the management of these rare disorders.
Patients with heterozygous b thalassemia, E-b°-thalassemia, hemoglobin H disease and Hemoglobin-H-Constant Spring often have a thalassemia intermedia phenotype and do not necessarily require chronic transfusions. In fact, it is best if transfusion can be avoided. The decision to start transfusion is often difficult, particularly in the thalassemia-intermedia syndromes. In general, patients with hemoglobin less than 7 gm/dl will likely require chronic transfusion. However, the institution of chronic transfusion is rarely emergent.

The decision to start transfusions is based on inability to compensate for the low hemoglobin (signs of increased cardiac effort, tachycardia, sweating, poor feeding, and poor growth), or less commonly, due to increasing symptoms of ineffective erythropoiesis (bone changes, massive splenomegaly). The decision to institute chronic transfusions should not be based exclusively on the presence of anemia.

Click here to download the PDF Version of Clinical Practice Guidelines For the Management of Thalassemia Patients California Consensus