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Beta-thalassemia major in Malaysia, an ongoing public health problem.

Thalassemias are a heterogeneous group of disorders of hemoglobin synthesis which are characterized by the absence or reduced output of one or more globin chains of hemoglobin. This disease is a public health problem in Malaysia and can be confusing for the patients and the doctors as the picture varies from one patient to another. About 4.5% of the people in Malaysia are heterozygous carriers for beta-thalassemia and the couples are at risk of producing a child with betathalassemia major where affected births annually would be 2.1/1,000. During the last ten years, the spectrum of molecular defects and the clinical severity of the mutations that cause thalassemia have been identified. This information has resulted in ilnproved patient management. The most common beta-thalassemia mutations are IVS 1-5 (G to C) and CD 41-42 (-TCrn in the Malays and Chinese respectively.