Hb A2/E levels found in co-inheritance with the α-thalassemia-1 - -(SEA)/type deletion and either Hb E or β-thalassemia

Hemoglobin. 2012;36(4):381-7. doi: 10.3109/03630269.2012.679375. Epub 2012 May 7.

Abstract

The α-thalassemia-1 (α-thal-1) Southeast Asian (- -(SEA)) type deletion, β-thalassemia (β-thal) and Hb E [β26(B8)Glu→Lys, GAG>AAG] are the most common genetic disorders in Southeast Asian populations. Mean corpuscular volume (MCV) <80.0 fL with normal hemoglobin (Hb) is used for screening α- and β-thal, and a Hb E level of less than 25.0% is used for predicting α-thal-1 in Hb E trait. Thus, levels of Hb, MCV and Hb A(2)/E were reviewed and compared between the SEA type deletion co-inherited with β-thal trait (n = 61), with Hb E trait (n = 102) or homozygous Hb E (n = 13) and β-thal trait (n = 636), Hb E trait (n = 544) or homozygous Hb E (n = 83), respectively. When comparing the values of all three analyzed hematological parameters, only the - -(SEA)/β(E) values were shown to be significantly lower than those of Hb E trait. Furthermore, at a cut-off value of Hb A(2)/E of 21.54%, 95.0% of the - -(SEA)/β(E) had Hb A(2)/E levels lower than this cut-off value, while 94.0% of Hb E trait had Hb A(2)/E at higher levels. Accordingly, the Hb A(2)/E level at 21.54% is the best indicator for predicting co-inheritance of the α-thal-1 - -(SEA)/ deletion and Hb E trait.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics
  • Chromatography, High Pressure Liquid / methods
  • Erythrocyte Indices
  • Hemoglobin A2 / genetics*
  • Hemoglobin A2 / metabolism
  • Hemoglobin E / genetics*
  • Hemoglobin E / metabolism
  • Humans
  • Real-Time Polymerase Chain Reaction / methods
  • Reproducibility of Results
  • Retrospective Studies
  • Sensitivity and Specificity
  • Sequence Deletion
  • Thailand
  • alpha-Thalassemia / diagnosis
  • alpha-Thalassemia / ethnology
  • alpha-Thalassemia / genetics*
  • beta-Thalassemia / diagnosis
  • beta-Thalassemia / ethnology
  • beta-Thalassemia / genetics*

Substances

  • Hemoglobin A2
  • Hemoglobin E