Interaction of two different disorders in the beta-globin gene cluster associated with an increased hemoglobin F production: a novel deletion type of (G) gamma + ((A) gamma delta beta)(0)-thalassemia and a delta(0)-hereditary persistence of fetal hemoglobin determinant

Blood. 1991 Feb 15;77(4):861-7.

Abstract

We report two different disorders of the beta-globin gene cluster segregating in a Belgian family: a novel deletion that results in (G) gamma + ((A) gamma delta beta)(0)-thalassemia (thal) and a heterocellular hereditary persistence of foetal hemoglobin of the Swiss type linked to a delta(0)-thal gene (delta (0)-HPFH). Heterozygosity for the heterocellular HPFH brings about a moderate (3.4% to 8.24%) increase of hemoglobin (Hb) F having a G gamma/A gamma ratio of 4:1, whereas carriers of the G gamma + ((A) gamma delta beta)(0)-thal deletion show in their peripheral blood a considerably higher (15%) percentage of Hb F. Both defects interact in the compound heterozygotes for G gamma + ((A) gamma delta beta)(0)-thal and delta(0)-HPFH producing a further increase (up to 24%) of fetal Hb consisting entirely of G gamma chains. Molecular characterization of the (G) gamma + ((A) gamma delta beta)(0)-thal by means of Southern analysis showed that the deletion spans about 50 kb, removing the 3' end of the A gamma-gene, the psi beta-, delta-, and beta-genes. A number of possible mechanisms leading to the overproduction of Hb F in HPFH and (G) gamma + ((A) gamma delta beta)(0)-thal will be discussed.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child, Preschool
  • Chromosome Deletion*
  • Erythrocyte Indices
  • Female
  • Fetal Hemoglobin / biosynthesis
  • Fetal Hemoglobin / genetics*
  • Globins / genetics*
  • Hemoglobinopathies / genetics*
  • Heterozygote
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Nucleic Acid Hybridization
  • Pedigree
  • Restriction Mapping
  • Thalassemia / blood
  • Thalassemia / genetics*

Substances

  • Globins
  • Fetal Hemoglobin