ABSTRACT
Objective To retrospectively analyze the result of hemoglobin(Hb)test by using full-automatic Hb electrophoresis and evaluate the its significance in hemoglobinopathy.Methods The data of patients who underwent Hb electrophoresis test and regular blood tests in the hospital from January 2011 to December 2013 were included in the study.The test results were recorded including mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH)and results of Hb electrophoresis test.Final diag-nosis were made for suspected patients by using genetic testing,then disease detection rates and gene coincidence rates and constitu-ent ratios were calculated.Results 12 898 cases were included in the study,after statistical analysis the MCV was(85.32±13.61) fL,MCH was(29.87±6.44)pg.By using automatic hemoglobin electrophoresis,1 315 cases were found to be positive,in which 568 were male,747 were female,the detection rate was 10.19%.In the 1 315 patients,there were 761 cases suspectedα-thalassemia,ac-counted for 5.90%.There were 495 cases of suspectedβ-thalassemia,accounted for 3.84%,11 patients with HbJ(0.08%),15 pa-tients with HbK(0.12%),9 patients with HbG(0.07%),3 patients with HbD(0.02%),21 patients with HbE(0.16%).The sus-pected case′s final diagnosis were made by using genetic testing,α-thalassemia gene′s coincidence rate was 80.55%,β-thalassemia gene′s coincidence rate was 96.77%.Conclusion Automatic hemoglobin electrophoresis detection is of great significance for the di-agnosis of hemoglobinopathy.
ABSTRACT
Objective To explore the genotype of patients with glucose-6-phosphate dehydrogenas(G6PD)deficiency in Dong-guan and provide the basis for the clinical diagnosis and prevention.Methods The clinical data of patients who took G6PD activity screening in the hospital were collected from January 2011 to December 2013,the G6PD/6PGD ratios were recorded.469 patients with positive G6PD/6PGD ratio were randomly enrolled in the study,whose mutations were detected by reverse dot blot(RDB)as-say.Results During this period,we measured G6PD activity of 16 464 cases by G6PD/6PGD ratios,there were 672 positive cases, the positive rate was 4.08%.Randomly selected 469 positive samples,detected their genotye by RDB assay.We detected 173 cases of G1376T,141 cases of G1388A,82 cases of A95G,60 cases of G871A,23 cases of G392T,14 cases of C1024T.In addition to that, we also found some rare mutations,such as 6 cases of C1004T,2 cases of T517C,1 cases of C1360T.65 cases of C1311T gene poly-morphism and 96 cases of dual gene mutations were detected.Conclusion The incidence of G6PD deficiency is high and the gene mutation types in Dongguan are both representative for Chinese population and with local heterogeneity.The study on gene muta-tions of G6PD deficiency is benefit for diagnosis and prevention.