Background: Thalassemia is the most common monogenic disease worldwide. The severity of thalassemia depends on the degree of imbalance between the α-globin and β-globin chains. The aims of the current study were (1) to describe clinical and hematological characteristics of β-thalassemia patients; and (2) to investigate mutations of β-globin gene using Sanger sequencing, as well as the association between β-globin genotype and severity of β-thalassemia. Materials and method: 57 β-thalassemia patients treated at Hue Central Hospital were examined by sequencing the whole β-globin gene. Results: 80.7% with β-thalassemia intermedia, 19.3% with β-thalassemia major. Patients had 100% anemia, 75.4% splenomegaly, 50.9% hepatomegaly, 38.6% thalassemia facies, 28.1% jaundice and 15.8% iron overload; The red blood cell indices were decreased: Hb 7.5 ± 1.3 g/dL, MCV 70.9 ± 8.4 fL, MCH 20.5 ± 2.1 pg. Hemoglobin composition included HbA 35.2 ± 33.9%, HbA2 6.1 ± 2.7%, HbF 24.8 ± 18.0%, and HbE 38.6 ± 15.2%. Nine β-globin gene mutations were observed. The most common genotype was βE/β0, which occupied 80.7%. The βE/βA, β0/βA and βE/β+ genotypes were only found in β-thalassemia intermedia individuals, while the β0/β0 genotype was limited to β-thalassemia major patients. The βE/β0 genotype was seen in both types. Conclusion: There was differences in age of blood transfusion initiation between the genotypes. Among them, the β0/β0 genotype was the most severe. Key words: β-thalassemia intermedia, β-thalassemia major, genotype.
Background: Hemoglobinopathy is the most common monogenic disease worldwide. The aims of the current study were: (1) to investigate some hematological characteristics of patients with hemoglobinopathies; and (2) to detect the mutation of α-globin and β-globin genes, as well as the association between genotype and degree of anemia. Materials and method: 251 patients with hemoglobinopathies were examined for the α-globin or β-globin gene mutations. Results: 51% were the carriers, and 49% were thalassemia intermedia or thalassemia major. Hematological characteristics were suitable for α-thalassemia or β-thalassemia. Elevenβ-globin gene mutations were observed. The β0/βA, βE/βA, βE/βE, βE/β+, β+/β+ genotypes were only found in β-thalassemia intermedia individuals; the β0/β0 genotype was limited to β-thalassemia major patients; the β+/β0 and βE/β0 genotypes were seen in both types. Four α-globin gene mutations were observed. All α-thalassemia patients were intermedia, the most common genotype was --SEA/-α3.7. Conclusion: There were differences in anemia degree between β-globin genotypes Key words: hemoglobinopathies, α-globin, β-globin.
Objectives: (1) To compare PCR method using ureA gene-specific primers and rapid urease test (RUT) for the diagnosis of H. pylori infection in gastric biopsy specimens; and (2) to determine the prevalence of H. pylori infection among patients with gastroduodenal diseases by the combination of both methods. Materials and method: Gastric biopsy specimens were collected from by endoscopy from 106 patients with gastroduodenal diseases. H. pylori infection was determined by the rapid urease test (RUT), followed by the PCR using ureA gene-specific primers. Results: This study reveals a high-level concordance (κ = 0.885; 95%CI: 0.796 – 0.974) between PCR and RUT for the diagnosis of H. pylori infection. However, PCR detected H. pylori in 5 (10.4%) of RUT-negative patients; and only 1 (1.7%) of RUT-positive cases were PCR-negative. The prevalence of H. pylori infection diagnosed by both PCR and RUT methods was 53.7%. The H. pylori infection was prevalent in gastroduodenal ulcers and patients with unknown medical history, 75% (p = 0.015) and 63.5% (p = 0.029), respectively. Conclusion: PCR using ureA gene-specific primers can detect several cases with H. pylori infection overlooked by RUT. The prevalence of H. pylori infection was still high, particularly in gastroduodenal ulcers and patients with an unknown medical history. Key words: rapid urease test (RUT), H. pylori, ureA gene-specific primers
Background: Helicobacter pylori is an agent of gastric cancer that was classified as a group I carcinogen. cagA and vacA genes of H. pylori play important roles in the pathogenesis of gastroduodenal diseases. This research aimed to: (1) To determine the prevalence of cagA and vacA genotypes of H. pylori among patients with gastroduodenal diseases. (2) To investigate the association between cagA and vacA genotypes and gastroduodenal diseases. Patients and methods: One hundred and fifteen gastroduodenal disease patients infected with H. pylori were enrolled in this study. cagA and vacA genotypes were determined by PCR. Result: The rate of cagA-positive H. pylori strains was 80%. The most common genotype combinations were cagA (+)/ vacA s1m1i1 (39.1%) and cagA (+)/vacA s1m2i1 (25.2%). The cagA (+)/vacA s1m1i1 strain was predominant in peptic ulcer group (59.3%), whereas the cagA (+)/vacA s1m2i1 strain accounted for a high rate in gastric cancer group (75%). Conclusion: Prevalence of H. pylori strains carrying the cagA gene was quite high, and vacA smi genotypes were diverse. cagA (+)/vacA s1m1i1 strain was associated with peptic ulcer disease while cagA (+)/vacA s1m2i1 strain was associated with gastric cancer. Key words: Helicobacter pylori, gene cagA, gene vacA, gastroduodenal diseases.
Background: cagA gene EPIYA motifs of H. pylori play an important role in the pathogenesis of gastroduodenal disease. This study is aimed at (1) Identify patterns of cagA gene EPIYA motifs ofH. pyloristrains from gastric biopsy specimens; (2) Investigate the association between cagA gene EPIYA motifs and gastroduodenal diseases. Patients and methods: Eighty-nine gastroduodenal disease patients infected with cagA-positive H. pylori were enrolled in this study. The patterns of cagA gene EPIYA motifs were determined by PCR. Result: cagA-positive H. pylori strains with East Asian-type EPIYA motif were predominant (89.9%), whereas strains with Western-type EPIYA motif accounted for only 10.1%. There were two strains with rare East Asian-type EPIYA, as -ABDBD and -AABD. In the duodenal ulcer group, the prevalence of East Asian-type and Western-type EPIYA motifs were 80% and 20%, respectively. Meanwhile, East Asian-type and Westerntype EPIYA motifs accounted for 95.8% and 4.2%, respectively in the gastric cancer group. Conclusion: cagA gene EPIYA motifs of cagA-positive H. pylori were quite diverse with the predominance of East Asian-type EPIYA motif. There were two rare motifs as -ABDBD and -AABD. The frequency of strains with East Asian-type EPIYA motif was highest in the gastric cancer group, whereas it was lowest in the duodenal ulcer group. Key words: Helicobacter pylori, cagA gene, EPIYA motif, gastroduodenal diseases
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