Beta-thalassemia Intermedia: An Overview

Abstract

<P>Thalassemias are inherited anemias characterized by decreased or absent globin chain synthesis and by ineffective erythropoesis. They are classified according to the defective globin chain and to the clinical severity. Beta-thalassemias, which are prevalent in the Mediterranean region, have decreased or absent beta-globin chain synthesis whereas, in alpha-thalassemias, the alpha-chain is affected. Thalassemia major is a severe, transfusion-dependent anemia with significant morbidity and mortality. Thalassemia intermedia are a genetic variant of the beta-thalassemias, which incorporates a less severe anemia than thalassemia major with inefficient erythropoiesis as well as peripheral hemolysis. Leg ulcers, pulmonary arterial hypertension, extramedullary hematopoiesis, and thrombotic events are some of the complications that thalassemia intermedia patients face.</P><H4>ABOUT THE AUTHORS</H4><P>Fuad El Rassi, MD, is with the Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon. Maria Domenica Cappellini, MD, is with the Hematology Department, University of Milano, Milano, Italy. Adlette Inati, MD, is with the Chronic Care Center, Division of Hematology, Hazmieh, Lebanon, and the Division of Pediatric Hematology and Oncology, Rafik Hariri University Hospital, Beirut. Ali Taher, MD, is Professor of Medicine, Department of Internal Medicine, American University of Beirut Medical Center, and the Chronic Care Center, Division of Hematology, Hazmieh.</P><P>Address correspondence to: Ali Taher, MD, Division of Hematology and Oncology, Department of Internal Medicine, American University of Beirut Medical Center, PO Box 11-0236, Riad El Solh 1107 2020, Beirut, Lebanon; or e-mail <a href="mailto:ataher@aub.edu.lb">ataher@aub.edu.lb</a>.</P><P>Dr. El Rassi, Dr. Cappellini, Dr. Inati, and Dr. Taher have disclosed no relevant financial relationships.</P><H4>EDUCATIONAL OBJECTIVES</H4><OL><LI>Review the metabolic pathways critical to maintaining red cell membrane integrity.</LI><LI>Produce a classification scheme for red cell enzyme disorders and remark on a strategy for their diagnostic workup.</LI><LI>Discuss the most commonly encountered red cell enzyme disorders in the pediatric population.</LI></OL>