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

OBJECTIVE: To investigate the gene mutation types and gene carrying rate of common thalassemia in patients with thalassemia in Quanzhou, and to analyze its molecular epidemiological characteristics in Quanzhou. METHODS: 546 patients with thalassemia diagnosed at the first hospital of Quanzhou from January 2017 to October 2018 were collected and retrospectively analyzed for their types of mutations and carrier rates. RESULTS: Among the 4226 samples submitted, 546 positive samples were detected, the total carrying rate of the thalassaemia genes was 12.92%; the carrier rate of α-thalassemia was 8.16%; the carrier rate of β-thalassemia was 4.76%; There were more α-thalassemia missing patients than non-deleted patients. The Southeast Asian deletion type (-- /αα) was the most common one, with a composition ratio of 68.98%, which was followed by 22.61% (-α/αα), 2.61% (αα/αα), and 2.32% (αα/αα), 2.32% (αα/αα), 1.16% (-α/αα); 9 types of β-thalassemia gene mutations were detected. The most common three mutations were IVSII-654 (C→T, 42.29%), CD41-42 (-TTCT, 33.83%), CD17 (A→T, 12.94%). 2 cases of --/αα , 1 case of αα/ααα and 1 case of HKαα were detected. CONCLUSION This study shows that the gene carrying rate of thalassemia in Quanzhou is high and has diversity, which can provide some reference for the prevention and control of thalassemia in Quanzhou.
China ; Genotype ; Humans ; Mutation ; Retrospective Studies ; alpha-Thalassemia ; beta-Thalassemia

OBJECTIVE: To analyze the genotype of pregnant women with α- and β- thalassemia in Fuzhou area of Fujian province in China. METHODS: Blood routine examination and hemoglobin electrophoresis were performed for pregnant women, and positive samples were examined by gap polymerase chain reaction and reverse dot blot hybridization. RESULTS: 412 cases were diagnosed as α-thalassemia (63.9%); 201 cases were diagnosed as β-thalassemia (31.2%); 32 cases were diagnosed as α and β-composite thalassemia. There were 12 genotypes in α-thalassemia, whose major genotypes were --/αα, α/αα, -α/αα and αα/αα, with carrying rate of 64.32%, 20.14%, 7.77% and 1.94%, respectively. There were 10 genotypes in β- thalassemia, whose major genotypes were CD41-42/N, CD17/N, IVS-II-654/N and -28/N, with carrying rate of 30.84%, 27.86%, 15.92% and 10.45%, respectively. There were 9 genotypes in α and β-composite thalassemia, whose major genotypes were --/αα composited CD41-42/N, -α/αα composited CD41-42/N, --/αα composited CD17/N, with carrying rate of 18.75%, 15.62%, 15.62% respectively. CONCLUSION The major genotypes of pregnant women with α- and β- thalassemia in Fuzhou area of Fujian province in China are --/αα, α/αα, CD41-42/N and CD17/N. Thalassemia screening and prenatal gene diagnosis should be strengthened in Fuzhou area of Fujian province in China.
China ; Female ; Genotype ; Humans ; Mutation ; Pregnancy ; alpha-Thalassemia ; beta-Thalassemia