Hb Paksé [(alpha2) codon 142 (TAA-->TAT or Term-->Tyr)J in Thai patients with EAbart's disease and Hb H Disease

Hemoglobin. 2002 Aug;26(3):227-35. doi: 10.1081/hem-120015026.

Abstract

Hb Paksé is caused by an alpha2-globin gene termination codon mutation, TAA-->TAT or Term-->Tyr, initially described in a Laotian family. We now report for the first time that the same mutation has been found in 14 Thai patients, seven with EABart's disease, four with Hb H disease, and three with alpha-thalassemia trait who were initially diagnosed as having Hb Constant Spring (Hb CS; alpha2-globin gene termination codon mutation TAA-->CAA or Term-->Gln). Co-inheritance of this mutation with alpha-thalassemia-1 (SEA type) leads to Hb H disease (hereafter designated as Hb H-Paksé disease) and to a complex thalassemia syndrome, namely EABart's-Paksé disease. Hematological data of these patients were compared with those of classical Hb H-CS and the EABart's patients. To facilitate epidemiological and diagnostic screening of Hb Paksé, a simple assay procedure based on allele specific polymerase chain reaction (PCR) amplifications was developed and validated. Using this allele specific PCR as a screening method, five additional individuals with Hb Paksé were found among 71 Thai subjects previously thought to have Hb CS.

Publication types

  • Research Support, Non-U.S. Gov't
  • Validation Study

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Child
  • Child, Preschool
  • Hemoglobinopathies / diagnosis*
  • Hemoglobinopathies / epidemiology
  • Hemoglobinopathies / genetics
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Infant
  • Mass Screening / methods
  • Polymerase Chain Reaction
  • Thailand / epidemiology
  • alpha-Thalassemia / diagnosis
  • alpha-Thalassemia / genetics

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Pakse
  • hemoglobin Bart's