Analysis of the gamma chains in a homozygote for HPFH Negro type and in three related heterozygotes

Acta Haematol. 1980;63(3):146-50. doi: 10.1159/000207386.

Abstract

The gamma-chain structure of a homozygote for HPFH Negro type, previously described by Acquaye and co-workers, and of 3 heterozygotes of the same family has been evaluated. G gamma and A gamma chains were present in a ratio of fetal type (7/3) in the homozygote and in ratios of 2/3 and 1/1 in the heterozygotes, in agreement with data of the literature. T gamma chains were absent in all the cases. Our results, compared with those previously reported for Negro and Greek HPFH, suggest that the T gamma gene is never linked with the HPFH determinant.

MeSH terms

  • Amino Acids / analysis*
  • Female
  • Fetal Hemoglobin / genetics
  • Fetal Hemoglobin / isolation & purification*
  • Hemoglobin A / isolation & purification
  • Hemoglobin A2 / isolation & purification
  • Hemoglobins, Abnormal / analysis
  • Hemoglobins, Abnormal / genetics*
  • Heterozygote
  • Homozygote
  • Humans
  • Male
  • Pedigree

Substances

  • Amino Acids
  • Hemoglobins, Abnormal
  • Hemoglobin A
  • Hemoglobin A2
  • Fetal Hemoglobin