Molecular epidemiological study ovalocytosis in Indonesia

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Southeast Asian ovalocytosis (SAO) is a hereditaty from of elliptocytosis resulting in rigid, oval-shaped erythrocytes resistant to invasion by malaria parasites. The molecular basis for SAO was recently identified as a heterogeneous presence of an altered erythrocyte band 3 protein, which lacked nine amino acids at the boundary between cytoplasmic and membrane domains. In order to clarify the mutation responsible for Indonesian ovalocytosis, we analyzed the erythrocyte band 3 protein gene of hereditary ovalocytosis in Rombok, Indonesia.The Indonesian case was diagnosed to be ovalocytosis, because examination of his peripheral blood smear disclosed 75% of red blood cells were ovalocytic. DNA sample was extracted from blood cells and used as a template for PCR amplification. To determine a mutation in the band 3 gene, 175 bp long region spreading from nt. 1098 to 1272 of band 3 protein cDNA was amplified. From normal DNA only one band was visualized. In contrast, two narrowly separated bands were obtained from Indonesian ovalocytosis case i. e. ; the one slightly smaller than a control, the other comigrating with the control. These results showed that the index case is heterogeneous for the band 3 gene.The amplified products were sequenced. Normal size product disclosed the sequence completely matched with that of wild type. The smaller amplified product had a 27 nucleotides deletion. These findings confirmed that the Indonesian ovalocyte is also heterozygous for the abnormal band 3 protein that has nine amino acids deletion.