Prenatal diagnosis of Thailand deletion of alpha-thalassemia 1 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To conduct prenatal diagnosis on the couples carrying Thailand deletion (--THAI) alpha-thalassemia 1 and at high risk of having fetus with alpha-thalassemia.</p><p><b>METHODS</b>Genotypes of couples and fetuses were analyzed by PCR and DNA sequencing.</p><p><b>RESULTS</b>Four pregnant women were patients with Hb H diseases of --THAI compounding with alpha-thalassemia 2, while their husbands were heterozygote of the Southeast Asian type alpha-thalassemia 1 (--SEA). Another 5 families, either husbands or wives were heterozygote of --THAI or --SEA. The genotypes of their fetuses were as follows: 2 cases with Hb Bart's hydrops fetalis syndrome, 1 Hb H disease, 4 alpha-thalassemia heterozygote and 2 normal. The DNA sequencing approved the PCR results.</p><p><b>CONCLUSION</b>The study on prenatal diagnosis of Thailand deletion alpha-thalassemia 1 is of importance to the genetic counseling and prenatal diagnosis of alpha-thalassemia.</p>

Relationships between Platelet Activation Markers and Myocardial Enzymes in Neonates with Hyperbilirubinemia / 实用儿科临床杂志

Objective To observe the changes of platelet activation markers in newborn infants with hyperbilirubinemia,and its relationship with myocardial enzymes and clinical significance.Methods Thirty neonates with hyperbilirubinemia were selected as observation group,and 15 health newborns were served as normal control group.In the morning,1 mL fasting blood in the femoral vein was collected from the patients in both groups,and 20 g/L EDTA-Na2 0.1 mL anticoagulant was added with a gentle shake.CD41-FITC 10 ?L was injected into two test tubes,with IgG1-PE and CD62-PE reagent 10 ?L added,diluted liquid 200 ?L PBS,and with 5 ?L whole blood,under dark room temperature for 15 minutes.Negative control tubes(CD41-FITC plus IgG1-PE) were applied to adjust voltage,the flow cytometry was used to determine CD62-PE.Myocardial enzymes and liver function were measured by automatic biochemistry analyzer.Results The levels of platelet activation markers in observation group were significantly higher than that in the normal control group(P