Thalassemia and hemoglobinopathies in Thailand: molecular diagnostics

Abstract

The introduction of the national prevention and control program of thalassemia and hemoglobinopathies throughout Thailand has not only led to the increase in a number of requests for routine hemoglobin analysis but also molecular study. As the matter of fact molecular diagnostics could provide useful information on the disease process and severity prediction. In addition, DNA analysis can also help to provide accurate diagnosis in cases with complex phenotypes and routine laboratory analysis could not provide definite diagnosis. However, molecular diagnostics are usually sophisticated, expensive and are heterogeneous in term of methodologies, selection of appropriate testing is therefore essential. At the Centre for Research and Development of Medical Diagnostic Laboratories (CMDL), Faculty of Associated Medical Sciences, Khon Kaen Universitry, one of the referring center in northeast Thailand, these molecular diagnostics are grouped into five different aspects including a – thalassemia, b – thalassemia, ab – thalassemia, high Hb F determinants and abnormal hemoglobin in which analysis could be performed quite efficiently.