No abstract available.
beta-Thalassemia* ; Thalassemia*

No abstract available.
beta-Thalassemia*

No abstract available.
beta-Thalassemia*

No abstract available.
beta-Thalassemia ; Hematologic Neoplasms

The rate of general population carries the gene of Beta-thalassemia in some countries was high such as North of Italia (20%), Sardinia (11-34%), and Cyprus (5-15%). The frequency of gene carrier of Beta-thalassemia was quite common such as Laos (9.6%), Thailand (6%), and South of China and Cambodia. This rate in Kinh Nation of Vietnam was 1.5-2% higher than other minorities. It was estimated that there were 1.17-1.56 millions of Vietnamese who carry the gene of Beta-thalassemia.
beta-Thalassemia ; epidemiology

50 samples of blood from patients diagnosed as betathalassemia in the center for blood transfussion and cryopreservation at minus 20oC and studied in the Mahidol University, where, DNA extracted by phenol and chloroform and the mutation analysed by technique of PCR and RDBH. The investigation of mutation that caused thalassemia help to establish the Center for the prenatal diagnosis, prevention and control of thalassemia in Vietnam.
beta-Thalassemia ; diagnosis ; mutation

Genotype ; Humans ; beta-Thalassemia

Background: \u03b2-thalassemia is a hereditary disease caused by disorder in \u03b2-globin chain synthesis process. In this research, multiplex-PCR was used in combination with blood chemistry assays and clinical symptoms to detect \u03b2-globin mutations. Objectives: (1) to identify the \u03b2-thalassemia mutation spectrum in the North of Vietnam; (2) to determine the relation between biochemistry values and types of mutations. Subject and methods: Blood samples collected from 60 pediatric patients were used in screening assays (hemoglobin counting, red blood cell counting, hematocrit\ufffd? and multiplex-PCR to detect 6 point mutations with high prevalence in the region. Results: \r\n', u'(1) Of 60 blood samples collected from pediatric patients, 30 (50%) had mutation in codon 17 (A\u2192T), 6 (10%) had a frameshift mutation in codons 41/42 and 4 (6%) had both types of these mutations; (2) The average onset time in patients with FS 41/42 mutation was earlier than that of patients with codon 17 (A\u2192T) mutation, whereas transfusion interval did not differ significantly among these patients; (3) Mean corpuscular volume (MCV) was lower in patients with homozygous mutations (\u03b2o) (average 64.8) than in those with heterozygous mutations (\u03b2+) (average 72.7). Conclusions: (1) multiplex-PCR is an effective technique in identifying the mutation spectrum of \u03b2-globin gene in the North of Vietnam; (2) Biochemistry assays should be associated with molecular techniques in diagnose of \u03b2-thalassemia\r\n', u'\r\n', u'\r\n', u'
beta-Thalassemia ; Thalassemia ; Genetic Diseases ; Inborn ; Mutation

Hemoglobins, Abnormal ; Humans ; alpha-Thalassemia ; complications ; beta-Thalassemia ; complications

OBJECTIVE: To investigate the gene-carrying rate and genetic types of thalassemia among the couples of child-bearing age in Ding'an, Hainan province. METHODS: A total of 1742 couples at child bearing age in the region were screened for thalassemia by detecting the mean corpuscular hemoglobin (MCH) and mean corpuscular volume (MCV). If the sample data of either spouse of couples was tested as MCV＜82 fl and /or MCH＜27 pg, both samples of the couple would be further assayed by hemoglobin electrophoresis. Those samples of HbA2 2.5 % or HbA2＞3.5 % were judged as positive in the preliminary screening, then subjected to genetic diagnosis of thalassemia. RESULTS: 478 cases out of 1 742 couples of child bearing age were diagnosed as thalassemia gene mutation, and the gene-carrying rate was 13.72 %. In those carriers, 42 couples were diagnosed with the same type of thalassemia, accounting for 3.67 %. The gene-carrying rate of α-thalassemia, β-thalassemia and αβ-thalassemia was 9.56%, 3.10% and 1.06 % respectively. CONCLUSION The Ding'an area in Hainan Province is an area with high incidence of thalassemia, and the main genotype is α-thalassemia, showing a distribution of local characteristics. The government should make efferts to popularise the screening for thalassemia, so as to effectively prevent the birth of children with thalassemia major.
Erythrocyte Indices ; Genetic Testing ; Heterozygote ; Humans ; alpha-Thalassemia ; beta-Thalassemia