A novel Mediterranean "delta beta-thalassemia" determinant containing the delta (+) 27 and beta (0) 39 point mutations in cis

Am J Hematol. 1994 Jan;45(1):81-4. doi: 10.1002/ajh.2830450113.

Abstract

The term delta beta-thalassemia with normal HbF has been recently proposed to define heterogenous delta and beta globin gene molecular defects involving the same chromosome in cis. Here, we describe a Sardinian family in which three members showing microcytosis, border-line HbA2 levels and normal HbF proved to be heterozygotes for delta(+) 27 and beta(0) 39 point mutations in cis by allele specific oligonucleotide hybridization as well as by ECO 0 109 I endonuclease digestion and electrophoresis. As some of these beta-thalassemia carriers shows normal HbA2 levels, knowledge of the molecular basis of this novel delta beta-thalassemia silent phenotype would be useful in thalassemia screening and genetic counselling.

Publication types

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

MeSH terms

  • Base Sequence
  • Fetal Hemoglobin / metabolism
  • Globins / genetics*
  • Hemoglobin A2 / metabolism
  • Heterozygote
  • Humans
  • Italy
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation*
  • beta-Thalassemia / genetics*

Substances

  • Globins
  • Hemoglobin A2
  • Fetal Hemoglobin