The Hemoglobin O mutation in Indonesia: distribution and phenotypic expression

We have investigated hemoglobin O Indonesia (HbO(Ina)) in related ethnic po pulations of the Indonesian archipelago: 1725 individuals of the five ethni c populations of South Sulawesi (Bugis, Toraja, Makassar, Mandar, and Kajan g) and 959 individuals of the neighboring islands, who were divided into fi ve phylogenetic groups: (a) Batak; (b) Malay from Padang, Pakanbaru, and Pa lembang in the island of Sumatra; (c) Javanese-related populations (Java, T engger, and Bali) from the islands of Java and Bali; (d) populations of the Lesser Sunda Islands of Lombok, Sumba, and Sumbawa: and (e) the Papuan-lan guage-speaking population of Alor Island. Nineteen individuals heterozygous for HbO(Ina) were identified from the Bugis, Toraja, Makassar, and Kajang ethnic populations, but none from the other populations. In all cases, the underlying mutation was found to be in codon 116 (GAG to AAG) of the alpha (1)-globin gene, resulting in the Glu116Lys amino acid change. The level of HbO in the 17 individuals plus 12 additional family members carrying the m utation was found to be 11.6 +/- 1.0%. significantly lower than the expecte d 17%-22%, indicating the instability of HbO.