title: A 65 bp deletion in band 3 gene of beta-thalassemia patients in Indonesia.
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.
authors: Anna Maria
authors: AM
authors: Dewajanthi
authors: Vita K
authors: VK
authors: Lubis
authors: Septelia Inawati
authors: SI
authors: Wanandi
authors: Djajadiman
authors: D
authors: Gatot
authors: Rondang R
authors: RR
authors: Soegianto
authors: Seruni K U
authors: SK
authors: Freisleben
authors: Iskandar
authors: I
authors: Wahidiyat
authors: Hans-Joachim
authors: HJ
authors: Freisleben
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence / Q000235:genetics*; D001457:Anion Exchange Protein 1, Erythrocyte / Q000235:genetics*; D016022:Case-Control Studies; D004587:Electrophoresis, Agar Gel; D005260:Female; D006801:Humans; D007214:Indonesia; D008297:Male; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D001457:Anion Exchange Protein 1, Erythrocyte