Hb Evora [alpha2-35 (B16), Ser-->Pro], a novel hemoglobin variant associated with an alpha-thalassemia phenotype

Haematologica. 2007 Feb;92(2):252-3. doi: 10.3324/haematol.10790.

Abstract

We report a novel mutation in the alpha2-globin gene, codon 35 (T-->C), detected in two unrelated Portuguese families. This mutation gives rise to a previously undescribed hemoglobin (Hb) variant, which we named Hb Evora. This variant seems to be responsible for the alpha-thalassemia phenotype present in its carriers. It cannot be detected by conventional laboratory techniques, probably because of its highly unstable nature.

Publication types

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

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • Family Health
  • Female
  • Hemoglobins / genetics*
  • Hemoglobins / physiology*
  • Hemoglobins, Abnormal / genetics*
  • Heterozygote
  • Humans
  • Male
  • Mutation*
  • Phenotype
  • Polymerase Chain Reaction
  • Portugal
  • alpha-Thalassemia / blood*
  • alpha-Thalassemia / genetics*

Substances

  • Hemoglobins
  • Hemoglobins, Abnormal