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1.
Chinese Journal of Medical Genetics ; (6): 1326-1330, 2020.
Artigo em Chinês | WPRIM | ID: wpr-879491

RESUMO

OBJECTIVE@#To analyze the incidence, genotype and hematological feature of hemoglobin H (HbH) disease in West Guangxi region.@*METHODS@#A total of 1246 patients diagnosed with HbH disease from January 2013 to December 2018 in our hospital were enrolled. Red blood cell parameters, hemoglobin electrophoresis, Gap-polymerase china reaction (Gap-PCR) and polymerase chain reaction-reverse dot blot (PCR-RDB) techniques were used to detect the 6 common α-thalassemia mutations and 17 common β-thalassemia mutations. The results were compared with those of other regions.@*RESULTS@#The detection rate for HbH disease was 5.66%. Among the 1246 patients, 614 (49.28%) had deletion-type HbH disease, including -α @*CONCLUSION@#The prevalence of HbH disease is high in West Guangxi region, and the main genotypeis non-deletion. α


Assuntos
Humanos , China/epidemiologia , Genótipo , Mutação , Prevalência , Talassemia alfa/patologia , Talassemia beta/genética
2.
Chinese Journal of Rheumatology ; (12): 441-445, 2016.
Artigo em Chinês | WPRIM | ID: wpr-670302

RESUMO

Objective To investigate the association between peripheral monocyte CD36 expression and rheum-atoid arthritis (RA).Methods A total of 108 patients with RA and 108 healthy individuals were included between 2014 and 2015.Disease Activity Score (DAS)28-erythrocyte sedimentation rate (ESR) and DAS28-C reactive protein (CRP) were used to estimate disease activity in patients with RA,and monocyte CD36 fluorescence intensity was determined by using flow cytometry.Student's t test or Mann-Whitney U test was used to compare the differences between the two groups.The categorical data was compared using x2 test.Correlations between variables were analyzed with Spearman correlation,Logistic regression analysis was used to identify risk factors associated with RA,we used receiver operating characteristic (ROC) curve to estimate the performance of relevant variables for RA.Results Low density lipoprotein cholesterin (LDL-C) [(2.8±0.8) mmol/L,(2.6±0.6) mmol/L,t=-2.046,P=0.042],ESR[25.5(18.00,40.00) mm/1 h,10.00(4.60,10.00) mm/1 h,Z=-12.786,P<0.01],CRP [15.9 (6.71,25.43) mg/L,2.28 (1.63,4.60) mg/L,Z=-7.980,P<0.01] and monocyte CD36 expression [(0.44±0.22)×109/L,(081 ±0.26)×109/L,t=1 1.159,P<0.01] was statistically different between the two groups.Of note,monocyte CD36 fluorescence intensity was negatively correlated with disease activity in patients with moderate and severe disease (r=-0.146,P=0.036;r=-0.259,P=0.007).In stepwise Logistic regression analysis,monocyte CD36 fluorescence intensity was independently associated with RA [OR=0.803,P=0.002,95%CI (0.791,0.820)].ROC curve analysis showed a significant performance with area under curve of 0.855 [95%CI (0.807,0.904);P<0.01],the sensitivity and specificity were 80.6% and 73.1%,respectively,the cutoff values was 0.570.Conclusion Monocyte CD36 fluorescence intensity was independently associated with RA in stepwise Logistic regression analysis.A correlation between monocyte CD36 fluorescence intensity and DAS28-CRP,DAS28-ESR was observed in RA patients.

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