RESUMEN
Objectives: The prevalence of G6PD deficiency has not been reported in Yangjiang, a western city in Guangdong province. This study aims to investigate the molecular characteristics of G6PD deficiency in this region. Methods: Blood samples were collected from adults at a local hospital to screen for G6PD deficiency. The deficient samples were subjected to further analysis using PCR and reverse dot blot to determine the specific G6PD variants. Results: Among the 3314 male subjects, 250 cases of G6PD deficiency were found using the G6PD enzyme quantitative assay, resulting in a prevalence of 7.54% (250/3314) in the Yangjiang region. The prevalence of G6PD deficiency in females was 3.42% (176/5145). Out of the 268 cases of G6PD deficiency tested for G6PD mutations, reverse dot blot identified 20 different G6PD variants. The most common G6PD variant was c.1388G>A (81/268), followed by c.1376G>T (48/268), c.95A>G (32/268), c.1024C>T (9/268), c.392G>T (7/268), and c.871G>A/c.1311C>T (6/268). It was observed that c.871G>A was always linked to the polymorphism of c.1311C>T in this population. Conclusion: This investigation into G6PD deficiency in this area is expected to significantly improve our understanding of the prevalence and molecular characterization of this condition.
RESUMEN
OBJECTIVES: The characteristic of glucose-6-phosphate dehydrogenase (G6PD) deficiency is red blood cell (RBC) destruction in response to oxidative stress. Patients requiring RBC transfusions may simultaneously receive oxidative medications or have concurrent infections, both of which can induce hemolysis in G6PD-deficient RBCs. We intend to investigate the incidence of G6PD deficiency in voluntary blood donors and to evaluate the transfusion risk associated with G6PD deficiency in Guangdong province. METHODS: G6PD enzyme was analyzed in 3042 donors and gene mutations were genotyped in G6PD-deficient samples. RESULTS: The G6PD-deficient prevalence of voluntary blood donors was 6.97% (212/3042), 55.19% blood donors with G6PD deficiency donated blood more than twice. Eighty-five cases of G6PD deficiency were genotyped, and the common types of G6PD mutations were c.1376 G > T, c.1388 G > A, c.95 A > G, c.1024 C > T, and c.871 G > A. CONCLUSIONS: Due to the high prevalence of G6PD deficiency in Foshan area, we recommended that the screening of G6PD deficiency should be carried out for the regular blood donors to ensure the safety of blood users.
Asunto(s)
Deficiencia de Glucosafosfato Deshidrogenasa , Donantes de Sangre , China/epidemiología , Transfusión de Eritrocitos , Eritrocitos/metabolismo , Glucosafosfato Deshidrogenasa/genética , Glucosafosfato Deshidrogenasa/metabolismo , Deficiencia de Glucosafosfato Deshidrogenasa/epidemiología , Deficiencia de Glucosafosfato Deshidrogenasa/genética , HumanosRESUMEN
OBJECTIVE: To assess the value of an improved ischemia modified albumin (IMA) assay in the diagnosis of early acute myocardial infarction (AMI). METHODS: Forty-three patients with AMI were enrolled in this study with 41 patients with chest pain serving as the control. Blood samples were obtained from all the patients within 6 h after the onset. IMA was measured by the albumin cobalt binding test and results were presented by absorbance units (ABSU). Receiver operator characteristic curve (ROC curve) was used to evaluate the optimal cut-off value of the assay. RESULTS: The mean absorbance in AMI group was obviously higher than that in the control group (1.195-/+0.320 vs 0.855-/+0.068, P<0.001). The area under the receiver of ROC curve was 0.947, and at the cut-off value of 0.906 ABSU, the sensitivity and specificity of the assay were 93.0% and 82.9%, respectively. CONCLUSION: The improved IMA assay shows good value in early diagnosis of AMI in patients with acute chest pain.
