Delta + 27 homozygosis in a Sicilian family

Haematologica. 1992 Jan-Feb;77(1):82-3.

Abstract

During a screening program to identify at risk couples for beta-thalassemia first-trimester prenatal diagnosis, we were able to detect, by polymerase chain reaction (PCR) and direct genomic sequencing of the PCR product, a homozygosis for the G-T substitution at the first nucleotide of codon 27 of the delta-globin gene in a pregnant Sicilian woman. The possibility of showing an interaction between delta and beta thalassemia is relevant for a thalassemia prevention program because it may hide a beta-thal carrier state.

Publication types

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

MeSH terms

  • Base Sequence
  • DNA Mutational Analysis
  • Female
  • Globins / genetics*
  • Humans
  • Molecular Sequence Data
  • Pedigree
  • Polymerase Chain Reaction
  • Pregnancy
  • Pregnancy Complications, Hematologic / etiology*
  • Prenatal Diagnosis
  • Thalassemia / genetics*

Substances

  • Globins