RESUMEN
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.
Asunto(s)
Tamización de Portadores Genéticos/métodos , Pruebas Genéticas/métodos , Fragilidad Osmótica , Talasemia beta/diagnóstico , Talasemia beta/epidemiología , Adolescente , Anemia Hipocrómica/epidemiología , Anemia Hipocrómica/genética , Anemia Ferropénica/epidemiología , Anemia Ferropénica/genética , Niño , Análisis Costo-Beneficio , Egipto/epidemiología , Hemoglobina Fetal/metabolismo , Pruebas Genéticas/economía , Pruebas Genéticas/normas , Hemoglobina A2/metabolismo , Heterocigoto , Hospitales Pediátricos , Hospitales Universitarios , Hospitales Urbanos , Humanos , Hierro/sangre , Vigilancia de la Población , Prevalencia , Sensibilidad y Especificidad , Índice de Severidad de la Enfermedad , Transferrina/metabolismo , Talasemia beta/sangre , Talasemia beta/genéticaRESUMEN
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 >/= 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
