Molecular Characterization of ß-Thalassemia Mutations in Central Vietnam.

The molecular basis of ß-thalassemia (ß-thal) mutations in North and in South Vietnam have been described during the past 15 years, whereas limited data were available concerning the central area of the country. In this study, we describe the molecular characterization and frequency of ß-globin gene mutations in the Thua Thien Hue Province of Central Vietnam as the result of a first survey conducted in 22 transfusion-dependent patients, and four unrelated heterozygotes. Nine different known mutations were identified (seven of the ß0 and two of the ß+ type) in a total of 48 chromosomes. The most common was codon 26 (G>A) or Hb E (HBB: c.79 G>A) accounting for 29.2% of the total studied chromosomes, followed by codon 17 (A>T) (HBB: c.52 A>T) (25.0%), and codons 41/42 (-TTCT) (HBB: c.126_129delCTTT) (18.8%). Other mutations with appreciable frequencies (6.3-8.3%) were IVS-I-1 (G>T) (HBB: c.92+1 G>T), codon 26 (G>T) (HBB: c.79 G>T) and codons 71/72 (+A) (HBB: c.216_217insA). Relatively rarer (2.0%) were the promoter -28 (A>G) (HBB: c.78 A>G) mutation, the codon 95 (+A) (HBB: c.287_288insA), which is reported only in the Vietnamese, and the codons 14/15 (+G) (HBB: c.45_46insG) mutation, thus far observed only in Thailand. Results are relevant for implementing appropriate measures for ß-thal prevention and control in the region as well as in the whole country.

Burden of anemia in relation to thalassemia and iron deficiency among Vietnamese pregnant women.

BACKGROUND AND AIMS: Information about the extent to which anemia is related to thalassemia and iron deficiency (ID) is not available in Vietnam. This study investigated the burden of anemia in relation to thalassemia and ID among Vietnamese pregnant women. METHODS: A cross-sectional study was conducted in Thua Thien Hue, Central Vietnam. Blood samples taken from 399 pregnant women with a gestational age <12 weeks were analyzed. Anemia was defined as Hb levels <11 g/dl, and ID as ferritin values <15 ng/ml. RESULTS: Out of 399 participants, 77 (19.3%) were anemic. While the prevalence of ID was 20.1%, the prevalence of ID anemia was 6.0%. The overall prevalence of thalassemia was 7.3%. Of the 77 anemic women, 24 (31.2%) had ID, and 20 (26.0%) had thalassemia genes. The rest (42.9%) were anemic due to unknown causes. CONCLUSIONS: The results indicate that ID remains a significant health burden among the study population, together with anemia caused by unknown factors. Thalassemias appear not to contribute to a great extent to anemia among Vietnamese pregnant women. Other causes need to be investigated further in order to develop an effective control program for anemia within the population.