Premium
Molecular analysis of β‐thalassemia in South Vietnam
Author(s) -
Svasti M.L. Saovaros,
Hieu Tran Minh,
Munkongdee Thongperm,
Winichagoon Pranee,
Van Be Tran,
Van Binh Tran,
Fucharoen Suthat
Publication year - 2002
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.10193
Subject(s) - genetics , beta thalassemia , thalassemia , hindiii , biology , microbiology and biotechnology , beta (programming language) , frameshift mutation , population , mutation , medicine , gene , restriction enzyme , environmental health , computer science , programming language
In Vietnam, the carrier rate for β‐thalassemia varies from 1.5% to 25% depending on the ethnic groups of the population. The molecular basis of β‐thalassemia in South Vietnam was studied in 50 unrelated β‐thalassemia patients. Of these, 31 had β‐thalassemia/Hb E, 18 were homozygous for β‐thalassemia, and 1 carried the β‐thalassemia trait. The majority of the patients were Kinh, four were Chinese, and two were Kinh–Chinese. All had severe anemia and received blood transfusions regularly, every 1–3 months. Hepatosplenomegaly was found in all patients, and splenectomy had been done in six patients. Normal α‐globin genotype (αα/αα) was found in all subjects. Reverse dot‐blot hybridization using oligonucleotide probes specific for Southeast Asian mutations can detect β‐thalassemia in 60 chromosomes in addition to 31 chromosomes with β E mutation. Excluding the β E gene, six previously reported Thai and Chinese β‐thalassemia mutations were found, including codons 41/42 (−TCTT) 35.3%, codon 17 (A→T) 25.0%, −28 (A→G) 7.3%, codons 71/72 (+A) 7.3%, IVS‐II nt 654 (C→T) 7.3%, and IVS‐I nt 1 (G→T) 6.0%. The Vietnamese frameshift mutation at codon 95 (+A) was detected by ARMS in seven chromosomes (10.3%). DNA polymorphism of the β‐globin gene cluster carrying the codon 95 mutation was − + − − − − − + for G γ/ Xmn I, ϵ/ Hin cII, G γ/ Hin dIII, A γ/ Hin dIII, ψβ/ Hin cII, 3′ ψβ/ Hin cII, β/ Ava II, and 3′β/ Bam HI, respectively. The remaining mutation detected by the gap PCR was a large deletion known as the Chinese G γ( A γδβ) 0 ‐thalassemia. The two most common mutations were the frameshift at codons 41/42 (−TCTT) and the nonsense mutation in codon 17 (A→T). Thus β‐thalassemia mutations in South Vietnam is similar to the previous report from the North, although at different frequencies. This result will help to establish a center for prenatal diagnosis and for prevention and control of thalassemia in Vietnam. Am. J. Hematol. 71:85–88, 2002. © 2002 Wiley‐Liss, Inc.