Hb Antalya [codons 3-5 (Leu-Thr-Pro-->Ser-Asp-Ser)]: a new unstable variant leading to chronic microcytic anemia and high Hb A2

Hemoglobin. 2001 Nov;25(4):369-73. doi: 10.1081/hem-100107873.

Abstract

A novel beta-thalassemia mutation, not previously reported in the literature, was identified by direct DNA sequencing of the beta-globin gene. Hematological investigation of a 26-year-old woman due to her increased Hb A2 level (6.2%) led to the identification of a heterozygosity for a 9 bp (TCTGACTCT) deletion/insertion at codons 3-5. This was found to be the result of a deletion of cytosine (-C) at codon 5 (one of the nucleotides in the 13th or 14th position of exon 1). and an insertion of thymine (+T) in front of codon 3 at the 10th nucleotide in exon 1 of the beta-globin gene. As a result of these mutations, the amino acids at codons 3-5 were changed from Leu-Thr-Pro to Ser-Asp-Ser. The whole frameshift was prevented by this rearrangement in the beta-globin gene. In addition, this result may provide important clues to identify critical amino acids responsible for stabilization of the hemoglobin tetramer.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amino Acid Substitution
  • Anemia / etiology
  • Anemia / genetics
  • Anemia / pathology
  • Base Sequence
  • Chronic Disease
  • Erythrocytes, Abnormal / pathology
  • Female
  • Genetic Variation
  • Hemoglobin A2 / analysis
  • Hemoglobins, Abnormal / adverse effects
  • Hemoglobins, Abnormal / genetics*
  • Heterozygote
  • Humans
  • Mutation
  • Sequence Deletion
  • beta-Thalassemia / genetics

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Antalya
  • Hemoglobin A2