On the spectrum of beta-thalassemia mutations in Vietnam

The thalassemias, which are the most common monogenic diseases worldwide, occur at high frequency in developing countries where proper services for control and management are hampered by the lack of knowledge about their molecular bases and prevalence. The presence of ?-thalassemia (?-thal), which includes the Hb E syndrome, was earlier described as being distributed all over Vietnam, as having a frequency of carriers ranging from 1,5 to 25,0%. The amplitude of this difference was supposed to be depend on the remarkable ethnic heterogeneity of the population, consisting of as many as 60 minority groups living mostly in the northern and central regions. As for the molecular bases and distribution of the mutations affecting the ?-globin gene, some articles dealing with researches conducted in the country have been published in the past 17 years. These concerned North, South and Central Vietnam. With the aim to better focus on the spectrum of the mutations responsible for ?-thal, a survey has been undertaken in the Thua Thien Hue Province. Here, we will describe the extended results of such survey, which might guide appropriate future preventive and control actions.