G gamma beta + type of hereditary persistence of fetal haemoglobin in association with Hb C

J Med Genet. 1979 Aug;16(4):288-95. doi: 10.1136/jmg.16.4.288.

Abstract

This report describes a Negro family with the G gamma beta + type of hereditary persistence of fetal haemoglobin. Family members with levels of haemoglobin F of 17 to 23% had normal red cell indices, balanced globin chain synthesis, and a pancellular distribution of the fetal haemoglobin, showing that these subjects have a form of HPFH. The production of Hb A and C in addition to the large amount of Hb F in one family member showed that there was an active beta A gene in cis to the HPFH determinant, while structural analysis of the Hb F revealed the presence of only G gamma chains. The criteria for the diagnosis of G gamma beta + HPFH, and the relevance of such conditions to the control of globin gene expression, are discussed.

MeSH terms

  • Adult
  • Black People
  • Child, Preschool
  • Female
  • Fetal Hemoglobin / analysis
  • Fetal Hemoglobin / genetics*
  • Globins / biosynthesis
  • Hemoglobin A / analysis
  • Hemoglobin C / genetics*
  • Heterozygote
  • Humans
  • Pedigree

Substances

  • Globins
  • Hemoglobin C
  • Hemoglobin A
  • Fetal Hemoglobin