Association of heterocellular HPFH, beta(+)-thalassaemia, and delta beta(0)-thalassaemia: haematological and molecular aspects

J Med Genet. 1984 Aug;21(4):263-7. doi: 10.1136/jmg.21.4.263.

Abstract

An Italian family in which heterocellular hereditary persistence of fetal haemoglobin (HPFH) interacts with both beta(+)- and delta beta-thalassaemia is described. The index case was an 8 year old girl who was presumed to inherit both heterocellular HPFH and beta (+)-thalassaemia from her mother and delta beta-thalassaemia from her father. She was healthy and never needed blood transfusions. The possible contribution of heterocellular HPFH to the less severe expression of the compound delta beta/beta(+)-thalassaemia heterozygosity is discussed. By DNA analysis the specific delta beta-thalassaemia defect on the gamma delta beta globin gene region has been established. In addition, a previously unreported association of a polymorphic restriction site haplotype with a beta (+)-thalassaemia mutation has been observed.

Publication types

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

MeSH terms

  • Adult
  • Child
  • Chromosome Mapping
  • DNA Restriction Enzymes
  • Deoxyribonuclease EcoRI
  • Female
  • Fetal Hemoglobin / genetics*
  • Genes
  • Genetic Markers
  • Globins / genetics*
  • Heterozygote
  • Humans
  • Male
  • Pedigree
  • Thalassemia / blood
  • Thalassemia / genetics*

Substances

  • Genetic Markers
  • Globins
  • Fetal Hemoglobin
  • DNA Restriction Enzymes
  • Deoxyribonuclease EcoRI