Malaysia is a multi-ethnic nation, comprising of Malays and other indigenous groups (67.4%), Chinese (24.6%), Indians (7.3%) and others (0.7%). Thalassemia, which includes α- and β-thalassemia (α- and β-thal), is one of the most common genetic disease in Malaysia. Between 4.5 and 5.0% of the Malaysian population were reported to be carriers of this disease and 3.0-40.0% were Hb E (c.79G>A) carriers. In 2013, the Malaysian Thalassaemia Registry reported a total of 5712 registered thalassemia patients, of which 1847 had Hb E/β-thal and 2329 had β-thal major (β-TM). Out of the total number of registered thalassemia patients, Malays comprise 62.0%, Chinese 13.0% and Kadazan-Dusun 13.0%. There were eight common deletions and mutations of the α-thal gene, including three double gene deletions, two single gene deletions, and three nondeletional mutations. The five types of β-thal mutations generally found in the Malay ethnic group were codon 19 (A>G) (or Hb Malay (HBB: c.59A>G), IVS-I-1 (G>T) (HBB: c0.92+1G>T), IVS-I-5 (G>C) (HBB: 92+5 G>C), and polyadenylated signal (polyA) (AATAAA>AATAGA) (HBB: c.*112A>G). The structural variant, Hb E, accounted for 76.0% of the β-thal mutations. Malaysia was positioned among the top countries in terms of having the best healthcare in the world in 2019 and this includes free access to three iron chelation agents for the treatment of thalassemia. The Malaysian National Programme for Thalassemia Prevention and Control was launched in 2004 and consisted of mass public education campaigns, public awareness and health education, Malaysian Thalassaemia Registry, population screening, laboratory diagnosis and comprehensive patient management.
Keywords: Malaysia; Malaysian National Programme for Thalassemia Prevention and Control; Malaysian Thalassaemia Registry; Thalassemia.