A 65 BP deletion in band 3 gene of β-thalassemia patients in Indonesia

Anna Maria Dewajanthi, Vita K. Lubis, Septelia Inawati Wanandi, Djajadiman Gatot, Rondang R. Soegianto, Seruni K.U. Freisleben, Iskandar Wahidiyat, Hans Joachim Freisleben

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Abstract

We investigated whether in addition to the well known genetic alteration in red blood cell membrane band 3 protein, a deletion of 9 amino acids leading to ovalocytosis, other mutations to band 3 also exist. In 12% of our thalassemia major patients investigated, we found two bands in the agarose gel-electrophoresis of PCR products from band 3 gene with a difference of 65 ± 10 bp, equivalent to a deletion of 20 to 25 amino acids in band 3 protein. Thus, a co-existing band 3-mutant allele in addition to the thalassemic globin gene defects, could also contribute to erythrocyte membrane defects and to the spectrum of clinical symptoms of these thalassemia major patients.

Original languageEnglish
Pages (from-to)183-186
Number of pages4
JournalSoutheast Asian Journal of Tropical Medicine and Public Health
Volume45
Issue number1
Publication statusPublished - 1 Jan 2014

Keywords

  • Band-3 gene
  • Deletion
  • Electrophoresis
  • Indonesia
  • PCR
  • Thalassemia

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    Dewajanthi, A. M., Lubis, V. K., Wanandi, S. I., Gatot, D., Soegianto, R. R., Freisleben, S. K. U., Wahidiyat, I., & Freisleben, H. J. (2014). A 65 BP deletion in band 3 gene of β-thalassemia patients in Indonesia. Southeast Asian Journal of Tropical Medicine and Public Health, 45(1), 183-186.