Simple method for screening of alpha-thalassaemia 1 carriers

Int J Hematol. 2009 Jun;89(5):559-67. doi: 10.1007/s12185-009-0331-4. Epub 2009 May 14.

Abstract

Alpha-thalassaemia 1 genetic disorder occurs when there is a deletion of two linked alpha-globin genes. The interaction between these abnormal genes leads to the most severe type of thalassaemia disease, haemoglobin (Hb) Bart's hydrops fetalis. The identification of alpha-thalassaemia 1 carriers and genetic counselling are essential for the prevention and control of severe thalassaemia diseases. In this study, we have developed a rapid screening method for identifying alpha-thalassaemia 1. A sandwich-type immunochromatographic (IC) strip test was developed, using the generated monoclonal anti-Hb Bart's antibody, to trace the Hb Bart's in haemolysates. When assayed by our IC strip test, all alpha-thalassaemia 1, HbH disease, HbH-Constant Spring (H-CS) disease, HbH-CS and heterozygous HbE (CSEA) Bart's disease, and homozygous alpha-thalassaemia 2 showed positive results. No false negative results were observed in these blood samples. In alpha-thalassaemia 2 heterozygotes, 83% of them showed positive reactivity. Among HbE (both homozygotes and heterozygotes), beta-thalassaemia (heterozygotes, homozygotes and beta-thalassaemia/HbE) and normal subjects, the IC strip test revealed negative reactivity of 100, 85 and 97%, respectively. These results indicate that this novel immunodiagnostic kit, in combination with red blood cell indices, is suitable for screening and ruling out mass populations for the presence of alpha-thalassaemia 1.

Publication types

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

MeSH terms

  • Antibodies, Monoclonal
  • Chromatography
  • Hemoglobins, Abnormal / immunology
  • Heterozygote*
  • Humans
  • Immunoassay / methods*
  • Immunoassay / standards
  • Mass Screening / methods*
  • Mass Screening / standards
  • Methods
  • Reagent Kits, Diagnostic
  • Sensitivity and Specificity
  • alpha-Thalassemia / diagnosis*

Substances

  • Antibodies, Monoclonal
  • Hemoglobins, Abnormal
  • Reagent Kits, Diagnostic
  • hemoglobin Bart's