DNA diagnosis of Hb S and Hb Caribbean (alpha 2 beta 2 91 Leu-->Arg) in a Jamaican family

Am J Hematol. 1994 Sep;47(1):33-5. doi: 10.1002/ajh.2830470107.

Abstract

We describe a Canadian infant of Jamaican descent who presented with mild anemia. Hb electrophoresis revealed Hb S and an unknown Hb variant that migrated slightly faster than Hb S on cellulose acetate. Molecular studies of the family indicated that the proband is a compound heterozygote for Hb S and Hb Caribbean. Hb Caribbean has previously been characterized as a mildly unstable hemoglobin with low oxygen affinity, due to a Leu-->Arg substitution at amino acid residue 91. The present study establishes the molecular basis for Hb Caribbean (beta 91, CTG-->CGG) and confirms that Hb S/Hb Caribbean syndrome is not associated with serious clinical manifestations.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Base Sequence
  • DNA / analysis*
  • Female
  • Genetic Variation
  • Hemoglobin, Sickle / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Heterozygote
  • Humans
  • Infant
  • Jamaica
  • Male
  • Molecular Sequence Data

Substances

  • Hemoglobin, Sickle
  • Hemoglobins, Abnormal
  • hemoglobin Caribbean
  • DNA