FIRST DATA ON THE SPECTRUM OF b-THALASSEMIA MUTATIONS IN THE REGION OF THUA THIEN HUE, VIETNAM

Hemoglobinopathies, which include hemoglobin (Hb) variants and the various forms of thalassemia (thal), are the most frequent genetic abnormalities worldwide; while heterozygotes are usually healthy carriers, many homozygotes or compound heterozygotes suffer from severe diseases. Nowadays, therapeutic progresses have strongly modified the course of Hb-pathies with clinical implications, and prevention of Hb disorders is essentially done by diagnosis of the carrier. b-thalassemia represents a major public health problem even in Southeast Asia. Development of genetic counseling and prenatal diagnosis programs by the local governments should be thus considered as a priority. Thus far, in order to provide the necessary background for such programs, a limited number of researches were done in Vietnam. Here, the first contribution to the knowledge of the spectrum of b-thal mutations occurring in the Central province of Thua Thien Hue is described. The research was conducted on 14 families referring to the Central Hospital in Hue because of the presence of severely affected members. Mutations at the level of the b-globin gene were identified after DNA extraction, amplification by PCR, and DNA sequencing.