Study of three families with Hb Agrinio [α29(B10)Leu→Pro, CTG>CCG (α2)] in the Spanish population: three homozygous cases

Hemoglobin. 2012;36(6):526-32. doi: 10.3109/03630269.2012.733988. Epub 2012 Oct 24.

Abstract

Most α-thalassemia (α-thal) mechanisms are deletions of one or both α-globin genes and less than 5.0-10.0% are point mutations. Hb Agrinio [α29(B10)Leu→Pro, CTG>CCG (α2)] is a hyperunstable α chain structural variant in which the thalassemic phenotype is determined by a post translational precipitation of the structurally anomalous chain in erythroid precursors. This study involved 14 cases with Hb Agrinio from three families. Selective sequencing of the α2 gene showed a CTG(Leu)>CCG(Pro) mutation at codon 29. The mutation was found in a heterozygous state in 11 cases and in a homozygous state in three cases. These are the first cases with Hb Agrinio described in Spain. In all cases where a leucine is exchanged for a proline, an unstable hemoglobin (Hb) will occur both in the α and the β chain. Some of these are as unstable as Hb Agrinio and their presence is difficult to detect except by DNA sequencing.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Amino Acid Substitution*
  • Base Sequence
  • Child
  • Child, Preschool
  • Codon*
  • Family
  • Female
  • Genotype
  • Hemoglobins, Abnormal / genetics*
  • Homozygote
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Spain
  • White People / genetics*
  • Young Adult
  • alpha-Thalassemia / diagnosis
  • alpha-Thalassemia / genetics

Substances

  • Codon
  • Hemoglobins, Abnormal
  • hemoglobin Agrinio