Compound heterozygosity for Hb Korle-Bu (beta(73); Asp-Asn) and Hb E (beta(26); Glu-Lys) with a 3.7-kb deletional alpha-thalassemia in Thai patients

Ann Hematol. 2002 Jul;81(7):389-93. doi: 10.1007/s00277-002-0485-0. Epub 2002 Jul 3.

Abstract

Hemoglobin (Hb) Korle-Bu (beta73; Asp-Asn) is the most frequent of the rare beta-chain variants in the population of West Africa whereas Hb E (beta26; Glu-Lys) is common among the Southeast Asian population. We report a hitherto undescribed condition in which these two beta-chain variants co-segregate. The proband was a 19-year-old Thai pregnant woman in her second trimester of pregnancy who visited our thalassemia screening unit. Cellulose acetate electrophoresis and high-performance liquid chromatography (HPLC) analysis of Hb detected one abnormal Hb in addition to the Hb E. Analysis of DNA sequences revealed a GAT-AAT mutation at codon 73 in trans to a GAG-AAG mutation at codon 26 of the beta-globin gene. Polymerase chain reaction (PCR) analysis of the alpha-globin gene cluster of the patient detected a 3.7-kb deletional alpha-thalassemia 2. Family study identified that her mother had the same genotype and her father was a simple Hb E carrier. The hematological data of these unusual cases of hemoglobinopathy are presented and compared with a simple heterozygote for Hb Korle-Bu found in another unrelated Thai family. beta-Globin gene haplotype linked to the Thai beta(Korle-Bu) and a simple DNA assay based on allele-specific PCR for rapid diagnosis of Hb Korle-Bu are also described.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Asparagine
  • Aspartic Acid
  • Base Sequence / genetics
  • Chromosome Segregation
  • Female
  • Gene Deletion*
  • Glutamic Acid
  • Hemoglobin E / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Heterozygote*
  • Humans
  • Lysine
  • Male
  • Middle Aged
  • Pregnancy
  • Thailand
  • alpha-Thalassemia / genetics*

Substances

  • Hemoglobins, Abnormal
  • Aspartic Acid
  • Glutamic Acid
  • Asparagine
  • Hemoglobin E
  • hemoglobin Korle
  • Lysine