Highlights & Basics
- There are at least four distinct alpha-thalassemias: silent carrier (1 affected alpha-globin gene), alpha-thalassemia trait (2 affected alpha-globin genes), hemoglobin H (Hb H) disease (typically 3 affected alpha-globin genes), and alpha-thalassemia major (also known as Hb Bart hydrops fetalis syndrome; typically deletion of all 4 alpha-globin genes).
- The severity of the clinical manifestations of anemia and hemolysis correspond with the genetic defect and the degree of impairment in alpha-globin synthesis.
- Alpha-thalassemia is found in malarial regions of the world (sub-Saharan Africa, the Mediterranean basin, the Middle East, South Asia, and Southeast Asia) and should be suspected in patients with these ethnic backgrounds and with microcytosis and/or anemia.
- The vast majority of alpha-thalassemia patients are clinically well and most are asymptomatic. Many patients with Hb H are also clinically well, but are at risk for acute hemolytic episodes, aplastic crises, iron overload (even in the absence of chronic transfusions), hypersplenism, and endocrine disease.
- Education is an important part of management and should cover the risks of acute events and, in genetic counseling, the risks of conceiving a child with Hb H disease or the potentially devastating alpha-thalassemia major.
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Citations
Thalassaemia International Federation. Guidelines for the management of alpha-thalassaemia (2023). 2023 [internet publication].[Full Text]
Northern California Comprehensive Thalassemia Center. Standards of care guidelines for thalassemia. 2012 [internet publication].[Full Text]
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