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

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.

• Authors: I Keser, O G Kayisli, A Yesilipek, O N Ozes, G Luleci
• Journal: Hemoglobin (Hemoglobin) Vol. 25 Issue 4 Pg. 369-73 (Nov 2001) ISSN: 0363-0269 [Print] England
• PMID: 11791869 (Publication Type: Case Reports, Journal Article)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Antalya
• Hemoglobin A2

Topics

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