Combination of Hb Knossos [Cod 27 (G-T)] and IVSII-745 (C-G) in a Turkish patient with beta-thalassemia major

Genet Test. 2007 Fall;11(3):228-30. doi: 10.1089/gte.2006.0521.

Abstract

Beta-thalassemia is the most common disease among hemoglobinopathies in Antalya, Turkey, as well as world-wide. Mutations found in Turkish beta-thalassemia patients constitute a heterogeneous group, consisting mostly of point mutations. Only in very rare cases did deletions or insertions cause affected or carrier phenotypes. Hb Knossos [beta 27 (B9) Ala-Ser] is a rare variant with a normal HbA2 level. In this study, we aimed to investigate the effect of compound heterozygosity for Hb Knossos [Cod 27 (G-T)] and IVSII-745 (C-G). To our knowledge, this is the first report of such a combination related with beta-thalassemia major phenotype in a Turkish family, where reverse dot blot hybridization (RDBH) and DNA sequencing analysis were used. Heterozygous inheritance of the mutation results in mild beta-thalassemia phenotype, whereas homozygous inheritance leads to intermediate beta-thalassemia. As a result, the compound heterozygosity of Hb Knossos with IVSII-745 appears as the cause of the beta-thalassemia major phenotype in our case. The combination of these mutations [Hb Knossos, Cod 27 (G-T), and IVSII-745, C-G] causes the beta-thalassemia major phenotype, and this is important for genetic counseling.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Child
  • Codon
  • Hemoglobins, Abnormal / genetics*
  • Heterozygote
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation
  • Phenotype
  • Sequence Analysis, DNA
  • Turkey
  • beta-Thalassemia / genetics*

Substances

  • Codon
  • Hemoglobins, Abnormal
  • hemoglobin Knossos