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1.
Journal of Experimental Hematology ; (6): 232-236, 2022.
Article in Chinese | WPRIM | ID: wpr-928699

ABSTRACT

OBJECTIVE@#To study the distribution characteristics of thalassemia genotype in Han Population in Sanya of Hainan Province.@*METHODS@#Gap PCR and reverse dot hybridization were used to detect and analyze the thalassemia gene in 572 suspected thalassemia carriers of Han Population in Sanya.@*RESULTS@#Among the 572 Han Population in Sanya, 271 cases of thalassemia gene abnormality were detected, among which 161 cases were founded to be carriers of α-thalassemia gene. A total of 9 genotypes were detected, in the following order of the detection rate was --SEA/αα,-α3.7/αα,-α4.2/αα,--SEA/-α3.7,--SEA/-α4.2,-α4.2/-α4.2,-α3.7/-α4.2,-α3.7/-α3.7,--SEA/--SEA. Among them, the deletion type (--SEA/αα) in southeast Asia was the most common, accounting for 66 cases. 99 cases of β-thalassemia were detected, there were 7 genotypes, all of which were heterozygous. The order of the detection rate was CD41-42/βN, IVS-II-654/βN, CD17/βN, CD71-72/βN, -28/βN, -29/βN, CD27-28/βN. Among them, CD41-42/βN was the most common, accounting for 51 cases. In addition, 11 cases of combined α and β thalassemia were detected. Five kinds of genotypes were checked out, the order of detection rate was -α3.7/αα composite CD41-42/βN, --SEA/αα composite IVS-II-654/βN, -α4.2/-α4.2 composite CD41-42/βN, -α4.2/αα composite -29/βN , --SEA/ -α4.2 composite CD41-42/βN.@*CONCLUSION@#Han Population in Sanya of Hainan Province is a high-risk population of thalassemia, the genotype characteristics are different from other areas with high incidence of thalassemia in China. The main type of α-thalassemia is the deficiency mutation of southeast Asia, while CD41-42 heterozygous mutation is the main type of β-thalassemia.


Subject(s)
Humans , China/epidemiology , Genotype , Heterozygote , Mutation , alpha-Thalassemia/genetics , beta-Thalassemia
2.
Journal of Experimental Hematology ; (6): 911-916, 2018.
Article in Chinese | WPRIM | ID: wpr-689554

ABSTRACT

<p><b>OBJECTIVE</b>To analyze the infection characteristics of sputum and venous blood pathogen in the patients with hematological malignancies and respiratory symptom in the Hematology Department in tropical region and to investigate its drug-resistance so as to provide etiological evidence for clinical treatment.</p><p><b>METHODS</b>The pathogens and their drug-resistance of 2466 samples in the patients with hematological malignancies and respiratory symptom in the Department were analyzed retrospectively from January 2013 to November 2017. The samples were collected from sputum and venous blood.</p><p><b>RESULTS</b>The sputum sample culture in patients with hematologic diseases showed that 224 strains were isolated, out of them 98 strains (43.75%) were fungi mainly candida albicans (41 strains); and then 88 Gram-negative strains (39.28%), among them the main pathogenic bacteria were Escherichia coli(22 strains) and klebsiella Klebsiella pneumoniae(12 strains); and then 38 Gram-positive strains (16.96%), among them the main pathogeni-bacteria were Enteroccocus (14 strains) and Gram-positive bacilli (14 strains). The blood samples culture of patients with hematologic diseases showed that 61 strains were isolated, out of them the isolated rate of Gram-positive bactetia was higherst, which accounted for 55.74%(34/61), mainly including staphylococcus lominis (19 strains); and the isolated rate of Gram-negative bacteria was 44.26% (27/61), among them main pathogenic bacteria was Klebsiella pneumoniae (12 strains). The resistance test of pathogenic bacteria to drugs showed that the resistant rate of Gram-negative bacteria to tigecycline, imipenem and atl-962 duenner was lowest, while the Gram-positive pathogenic bacteria such as Enterococcus, Gram-positive bacilli and Staphylococcus aureus were sensitive to vancomycin, tigecycline and linezolid was high.</p><p><b>CONCLUSION</b>the patients in hematology department are infected easily in the hospital in tropical region. The main pathogens are fungal strains in the respiratory tract of patients with hematological malignancy according to the sputum culture results. The clinician in tropical regions should choose suitable antibiotics for anti-infective therapy, which is different from the situation in North China or other northern areas.</p>


Subject(s)
Humans , Bacteria , Bacterial Infections , Candida , Candidiasis , China , Drug Resistance, Bacterial , Hematologic Neoplasms , Microbial Sensitivity Tests , Retrospective Studies
3.
Journal of Experimental Hematology ; (6): 1146-1150, 2018.
Article in Chinese | WPRIM | ID: wpr-689515

ABSTRACT

<p><b>OBJECTIVE</b>To explore the frequency and spectrum of thalassemia gene mutations of the population in Sanya area of Hainan province in China.</p><p><b>METHODS</b>The type and frequency of gene mutation in 1060 patients with suspected thalassemia were analyzed by Gap-PCR and reverse dot blot (RDB).</p><p><b>RESULTS</b>The 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%).</p><p><b>CONCLUSION</b>The 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.</p>


Subject(s)
Humans , China , Genotype , Heterozygote , Mutation , alpha-Thalassemia , beta-Thalassemia
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