Hemoglobinopathies in Southeast Asia: Molecular Biology and Clinical Medicine

Abstract

Thalassemia (thal) and hemoglobinopathies are widespread, recessive inherited diseases. Approximately 250 million people (4.5% of the world population) carry abnormal hemoglobin (Hb) genes. Southeast Asia consists of 10 countries, i.e. Brunei, Cambodia, Indonesia, Laos, Malaysia, Myanmar, the Philippines, Singapore, Thailand, and Vietnam, with a total population of more than 400 million. In most of these countries the population is ethnically heterogeneous. Thalassemias are common in Southeast Asia. α-Thalassemias are very prevalent, attaining frequencies of 20–40%. β-Thal, Hb Constant Spring (CS) and Hb E are also common, the latter attaining a frequency as high as 50–60% among certain populations (1). Abnormal genes in different combinations lead to more than 60 different thalassemic syndromes. The thalassemia disorders were originally confined to the tropics and subtropics. However, Southeast Asians are now scattered around the world and have carried with them most of the complex thalassemic conditions. Familiarity of physicians in nontropical countries with the complexity of the problems will help in the management of these chronic diseases.