No abstract available.
beta-Thalassemia* ; Thalassemia*

No abstract available.
beta-Thalassemia*

No abstract available.
beta-Thalassemia*

No abstract available.
beta-Thalassemia ; Hematologic Neoplasms

Genotype ; Humans ; beta-Thalassemia

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

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

OBJECTIVETo explore the frequency and spectrum of thalassemia gene mutations of the population in Sanya area of Hainan province in China.

METHODSThe type and frequency of gene mutation in 1060 patients with suspected thalassemia were analyzed by Gap-PCR and reverse dot blot (RDB).

RESULTSThe detection on mutation of thalassemia gene were found in 539 suspected thalassemia patients, the total detected rate was 50.85% (539/1060), out of them 330 (31.13%) were diagnosed with α-thalassemia, 162 (15.28%) with β-thalassemia, and 47 (4.43%) as carriers of both α and β-thalassemia. In α-thalassemia patients, genotype were as follows in proper order--SEA/αα (9.25%)、-α /αα (5.94%)，HbH (5.56%)，-α /αα (5.00%)，-α /-α (2.36%)，-α /-α (1.70%), and -α/-α(1.32%). In β-thalassemia patients, there were 9 gene mutations: CD41-42 (9.8%), CD17 (1.32%), 654 (1.23%), CD71-72 (1.23%), IVS-II-654 (1.04%), -28 (0.37%), CD43 (0.19%), -29 (0.18%) and βE (0.09%). In the α and β composite thalassemia there were 12 genotypes. The -α/αα was the most common genotype co-existed with β-thalassemia (1.70%), followed by the -α /αα genotype (0.94%).

CONCLUSIONThe data of this study provide the frequency and the spectrum of thalassemia gene mutations in the sanya area of Hainan province, which can contribute to set up the strategies for the prevention and control of thalassemia in this area.