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Objective:To analyze the gene mutation types and haematological characteristics of αβ compound thalassemia, non-delectable α-thalassemia and Hemoglobin H Disease (HbH disease) in Foshan.Methods:Using the method of retrospective analysis, we selected the population who had been tested for thalassemia gene in Foshan Second People's Hospital Affiliated to Southern Medical University from January 2011 to November 2019. Sysmex XT-5000 automatic hematology analyzer was used for routine blood analysis. α-, β- thalassemia genes were detected by PCR + diversion hybridization method.Results:A total of 4 563 people were tested, of which 1 829 were diagnosed as thalassaemia through genetic diagnosis. αβ compound thalassaemia was detected in 81 cases with a positive rate of 1.8%; non-delectable α-thalassemia was detected in 18 cases with a positive rate of 0.4%; HbH disease was detected in 23 cases with a positive rate of 0.5%. The most common genotypes of αβ compound thalassemia were -- SEA/αα\β41-42/βN (17.3%, 14/81), -α 3.7/αα\β41-42/βN (14.8%, 12/81), -- SEA/αα\β654/βN (11.1%, 9/81). The main manifestations of hematology were normal to mild anemia (93.8%, 76/81). Only β-thalassemia with double heterozygotes and α-thalassemia showed severe anemia. αα CS/αα\βN/βN genotypes were common in the local non delectable α-thalassemia (50.0%, 9/18), and the non delectable α-thalassemia was characterized by non-positive phenotype or typical small-cell hypochromatosis in hematology. The genotypes of local HbH patients were -α 3.7/-- SEA\βN/βN (65.2%, 15/23), and simple HbH manifested as moderate anemia (87.0%, 20/23). Patients with HbH disease and β-thalassemia had normal or mild anemia (13.0%, 3/23). Conclusions:The genotypes of αβ compound thalassemia in Foshan area are diverse and complex, and hematology mainly manifests as mild anemia or normal. Non-delectable α-thalassaemia is common in the genotype of αα CS/αα\βN/βN, and clinical manifestations are asymptomatic gene carriers. The genotype of local HbH patients is mainly -α 3.7/-- SEA\βN/βN, and the hematology mainly shows moderate anemia.
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Objective To explore the diagnostic value of serum lipoprotein(a)[Lp(a)]in cerebral infarction by a model of Logistic regression and receiver operating characteristic(ROC)curve.Methods A total of 316 patients with cerebral thrombosis from Foshan Hospital Affiliated to Southern Medical University were col-lected.According to the diagnostic criteria,the patients were divided into cerebral thrombosis group(196 ca-ses)and non-cerebral thrombosis group(120 cases).All the subjects were tested for Lp(a)by immune turbi-dimetry.To evaluate the diagnostic value of Lp(a)by applying logistic regression model,drawing ROC curves and calculating the area under the curve(AUC).Results The P25,P50,P75of Lp(a)in cerebral thrombosis group and non-cerebral thrombosis group were 97.23,238.22,430.01 and 29.80,92.27,233.86,the average rank were 185.42 and 114.52,the differences in the two groups were significant(P<0.05).Logistic regres-sion showed that the correlation between Lp(a)level and cerebral thrombosis was positive,the partial regres-sion coefficient(B)was 0.005,Wald value was 31.295.It suggested that when the levels of Lp(a)was higher the risk of cerebral thrombosis increased.The most valuable diagnosis level was 305.80 mg/L.And the area under the ROC curve(AUC)was 0.724,which has moderate diagnostic efficacy.Diagnostic specificity was 91.7%,misdiagnosis rate was 8.3%,negative predictive value was 48.7%,sensitivity was 40.8%,omission rate was 59.2%,positive predictive value was 88.9%.Conclusion The level of serum Lp(a)has high diag-nostic specificity for the diagnosis of cerebral thrombosis.