A 65 bp deletion in band 3 gene of beta-thalassemia patients in Indonesia

Southeast Asian J Trop Med Public Health. 2014 Jan;45(1):183-6.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Amino Acid Sequence / genetics*
  • Anion Exchange Protein 1, Erythrocyte / genetics*
  • Case-Control Studies
  • Electrophoresis, Agar Gel
  • Female
  • Humans
  • Indonesia
  • Male
  • Polymerase Chain Reaction
  • Sequence Deletion / genetics*
  • beta-Thalassemia / genetics*

Substances

  • Anion Exchange Protein 1, Erythrocyte