Five adults with mild sickle cell anemia share a beta S chromosome with the same haplotype

Am J Hematol. 1985 Nov;20(3):297-300. doi: 10.1002/ajh.2830200313.

Abstract

Five adult SS patients from Qatar, Turkey, and South Africa with mild disease, had greatly elevated Hb F and specific patterns of polymorphic sites on their beta S chromosomes. One subject had an alpha-thalassemia (-alpha/-alpha). The haplotypes were the common type #19, associated with severe disease, and type #31, not seen thus far in an SS patient (numbering system of Antonarakis et al). The data suggest that modifications in the DNA of the beta S #31 chromosome promotes the synthesis of gamma chains.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Anemia, Sickle Cell / blood
  • Anemia, Sickle Cell / genetics*
  • Child
  • Child, Preschool
  • Chromosomes, Human*
  • DNA / analysis
  • Female
  • Haploidy*
  • Hemoglobin, Sickle / genetics*
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Genetic

Substances

  • Hemoglobin, Sickle
  • DNA