Prenatal diagnosis of thalassemia using capillary electrophoresis system experience from northeast Thailand

Abstract

Prenatal diagnosis of thalassemia is an important step in a prevention and control of thalassemia in Thailand. Most of this prenatal diagnosis is usually done by DNA analysis of fetal tissues obtained by chorionic villus sampling (CVS) or amniocentesis. However, DNA analysis is sophisticated, time consuming, not routinely performed in most hospitals and could not be used when the mutations of the parents are unknown. Fetal hemoglobin (Hb) analysis using automated Hb analyzers including high performance liquid chromatography (HPLC) or capillary electrophoresis (CE) could be an alternative prenatal diagnostic option. In this article, we summarized and demonstrated our experience on using of the capillary electrophoresis system in prenatal diagnosis of severe a – and b - thalassemia diseases in northeast Thailand, done in parallel with standard DNA assays at the Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University.