Hb Cook [beta 132(H10)Lys-->Thr]: a new hemoglobin variant in a southeast Asian family

Hemoglobin. 1996 Nov;20(4):371-6. doi: 10.3109/03630269609005841.

Abstract

Approximately 700 hemoglobin variants have been reported, causing a variety of clinical manifestations, with the majority being clinically silent. We report a new hemoglobin variant, Hb Cook, that was found in combination with Hb E in a child of Thai origin. DNA sequencing of the beta-globin gene showed that the mutation is AAA-->ACA in codon 132, corresponding to beta 132 (H10)Lys-->Thr.

Publication types

  • Case Reports

MeSH terms

  • Asia, Southeastern
  • Chromatography, High Pressure Liquid
  • DNA, Complementary
  • Female
  • Globins / genetics*
  • Hemoglobins, Abnormal / analysis
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Infant
  • Male
  • Oligonucleotide Probes
  • Point Mutation

Substances

  • DNA, Complementary
  • Hemoglobins, Abnormal
  • Oligonucleotide Probes
  • hemoglobin Cook
  • Globins