Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala] and a delta(+)-thalassemia mutation [-31 (A --> G)] in the TATA box of the delta-globin gene

Hemoglobin. 2005;29(2):151-4.

Abstract

Two new delta-globin gene mutations have been detected: one leads to a fairly stable Hb A2 variant differing electrophoretically only minimally from normal Hb A2, and the second causes a delta(+)-thalassemia (thal) phenotype.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child, Preschool
  • Chromatography, Ion Exchange / methods
  • DNA Mutational Analysis / methods
  • Female
  • Genetic Carrier Screening
  • Genetic Variation / genetics*
  • Globins / analysis
  • Globins / genetics*
  • Hemoglobin A / genetics*
  • Hemoglobins, Abnormal / genetics
  • Humans
  • Iraq
  • Italy
  • Point Mutation / genetics*
  • TATA Box / genetics*
  • beta-Thalassemia / genetics*

Substances

  • Hemoglobins, Abnormal
  • Globins
  • Hemoglobin A