A G gamma type of the hereditary persistence of fetal hemoglobin with beta chain production in cis

Am J Hum Genet. 1975 Nov;27(6):765-77.

Abstract

In a new subclass of G gamma HPFH which has been detected in a black family, beta A chains are produced in cis to the HPFH determinant (the G gamma-beta+ HPFH). No other instance of beta chain production in cis to HPFH has been reported. All individuals in this family are well even if Hb S is produced in trans to HPFH. Genetically, this new subclass requires a slightly smaller deletion in the gamma, delta, and beta complex of genes than do other forms of HPFH. It is speculated that a subclass (the G gamma-(G gamma A gamma)-beta+ HPFH) in which beta S chains are produced in cis to HPFH in conjunction with true beta S genes in trans may be responsible for "mild" cases of sickle cell anemia.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Anemia, Sickle Cell / genetics*
  • Child
  • Child, Preschool
  • Electrophoresis, Starch Gel
  • Erythrocyte Count
  • Female
  • Fetal Hemoglobin / analysis*
  • Genetic Linkage*
  • Genetics, Medical
  • Globins / analysis
  • Hematocrit
  • Hemoglobins / analysis
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Thalassemia / genetics*

Substances

  • Hemoglobins
  • Globins
  • Fetal Hemoglobin