The hemoglobin O mutation in Indonesia: distribution and phenotypic expression

Area of Science:

• Genetics
• Molecular Biology
• Anthropology

Background:

• Hemoglobin variants are common in diverse populations.
• Hemoglobin O Indonesia (HbOIna) is a specific variant found in Indonesia.

Purpose of the Study:

• To investigate the prevalence and genetic basis of Hemoglobin O Indonesia (HbOIna) in Indonesian ethnic populations.
• To characterize the mutation responsible for HbOIna and its effect on hemoglobin levels.

Main Methods:

• Screening of 1725 individuals from South Sulawesi and 959 from neighboring islands for HbOIna.
• Genetic analysis to identify the mutation in the alpha1-globin gene.
• Quantification of HbO levels in affected individuals.

Main Results:

• HbOIna was detected in 19 heterozygous individuals from Bugis, Toraja, Makassar, and Kajang ethnic groups in South Sulawesi.
• The mutation was identified as Glull6Lys in codon 116 of the alpha1-globin gene.
• Affected individuals had significantly lower HbO levels (11.6 +/- 1.0%) than expected, indicating HbO instability.

Conclusions:

• HbOIna is present in specific ethnic groups of South Sulawesi, Indonesia.
• The Glull6Lys mutation leads to an unstable hemoglobin variant.
• Further research is needed to understand the clinical implications of HbOIna instability.