Clinical course and molecular characterization of a compound heterozygote for sickle hemoglobin and hemoglobin Kenya

Am J Hematol. 1992 Dec;41(4):289-91. doi: 10.1002/ajh.2830410413.

Abstract

We describe a 25-year-old black woman who presented with a long history of anemia requiring transfusions during childhood and adolescence. Molecular analysis revealed her to be a compound heterozygote for the sickle mutation and the approximately 22.7 kb deletion associated with hemoglobin Kenya. This patient's clinical course was more severe than previously reported for the Hb S/Hb Kenya genotype, a probable consequence of concomitant iron deficiency.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Base Sequence
  • Female
  • Fetal Hemoglobin / genetics*
  • Gene Deletion
  • Hemoglobin, Sickle / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Heterozygote*
  • Humans
  • Iron Deficiencies
  • Molecular Sequence Data

Substances

  • Hemoglobin, Sickle
  • Hemoglobins, Abnormal
  • hemoglobin Kenya
  • Fetal Hemoglobin