title: Molecular analysis of beta-thalassemia in Vietnam.
abstract: The molecular basis of the thalassemias has been studied in many of the world's populations. Here we report the results of the first screening for mutations in Vietnam. Twenty-three unrelated patients, of which 17 have Hb E/beta-thalassemia, were diagnosed and beta-globin mutations were detected in all 46 chromosomes. Four previously reported South Asian mutations were found. The most common mutations were the nonsense in codon 17 (A-->T) and the frameshift at codons 41/42 (-TTCT) (30 and 22%, respectively). The rare frameshift mutation at codon 95 (+A) was present in 9% of the 46 chromosomes studied, suggesting that it is indigenous to Vietnam. These results will serve as an initial database for DNA-based prenatal diagnosis of thalassemia in Vietnam.
authors.affiliation: Department of Hematology, Hebrew University - Hadassah Medical School, Jerusalem, Israel. filon@email.hadassah.org.il
authors.forename: D
authors.initials: D
authors.lastname: Filon
authors.forename: A
authors.initials: A
authors.lastname: Oppenheim
authors.forename: E A
authors.initials: EA
authors.lastname: Rachmilewitz
authors.forename: R
authors.initials: R
authors.lastname: Kot
authors.forename: D B
authors.initials: DB
authors.lastname: Truc
mesh_terms: D002648:Child; D002675:Child, Preschool; D016368:Frameshift Mutation; D005787:Gene Frequency; D005820:Genetic Testing; D006446:Hemoglobin E / Q000235:genetics; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense; D015345:Oligonucleotide Probes; D014744:Vietnam / Q000453:epidemiology; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D015345:Oligonucleotide Probes; D006446:Hemoglobin E