Hb L'Aquila [beta106(G8)Leu-->Val, CTG-->GTG]: a novel thalassemic hemoglobin variant

Hemoglobin. 2007;31(3):375-8. doi: 10.1080/03630260701462055.

Abstract

A new beta-globin variant at codon 106 (CTG-->GTG), and which we named Hb L'Aquila [beta106(G8)Leu-->Val], was detected by DNA analysis. The proband and her father presented with the features of a mild beta(+)-thalassemia (thal), confirmed by their alpha/beta-globin chain biosynthesis ratios.

MeSH terms

  • Adult
  • Amino Acid Substitution
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Globins / genetics
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Pedigree
  • Point Mutation*
  • beta-Thalassemia / genetics*

Substances

  • Hemoglobins, Abnormal
  • hemoglobin L'Aquila
  • Globins