Screening for beta-thalassaemia carriers in Egypt: significance of the osmotic fragility test

East Mediterr Health J. 2007 Jul-Aug;13(4):780-6.

Abstract

To estimate beta-thalassaemia carrier rate and to determine an accurate mass screening test, we tested 1000 randomly selected children aged 5-16 years from different geographical areas of Egypt. Microcytosis was present in 412 participants. The osmotic fragility test was positive in 81.1% of the 90 beta-thalassaemia carriers; in the indeterminate group (12 participants), the test was positive in 83.3%; in the 310 who were iron deficient, the test was positive in 63.9%. beta-thalassaemia carrier rate was > or = 9%. Serum iron, microcytosis, HbA2 level and transferrin saturation were accurate tests for detecting carriers. For the one-tube osmotic fragility test, sensitivity was 87.0% and specificity 34.1%; the test has limited use for a mass screening programme in Egypt, where iron deficiency is prevalent.

Publication types

  • Validation Study

MeSH terms

  • Adolescent
  • Anemia, Hypochromic / epidemiology
  • Anemia, Hypochromic / genetics
  • Anemia, Iron-Deficiency / epidemiology
  • Anemia, Iron-Deficiency / genetics
  • Child
  • Cost-Benefit Analysis
  • Egypt / epidemiology
  • Fetal Hemoglobin / metabolism
  • Genetic Carrier Screening / methods*
  • Genetic Testing / economics
  • Genetic Testing / methods*
  • Genetic Testing / standards
  • Hemoglobin A2 / metabolism
  • Heterozygote
  • Hospitals, Pediatric
  • Hospitals, University
  • Hospitals, Urban
  • Humans
  • Iron / blood
  • Osmotic Fragility*
  • Population Surveillance
  • Prevalence
  • Sensitivity and Specificity
  • Severity of Illness Index
  • Transferrin / metabolism
  • beta-Thalassemia / blood
  • beta-Thalassemia / diagnosis*
  • beta-Thalassemia / epidemiology*
  • beta-Thalassemia / genetics

Substances

  • Transferrin
  • Hemoglobin A2
  • Fetal Hemoglobin
  • Iron