[Genetic Mutation Characteristics of Glucose-6-Phosphate Dehydrogenase Deficiency Patients in Wuhan].

OBJECTIVE: To explore the genotype mutation characteristics of patients with glucose-6-phosphate dehydrogenase(G6PD) deficiency in Wuhan. METHODS: A total of 1 321 neonates with positive screening and outpatients were received G6PD mutation detection, 12 kinds of common G6PD mutation in Chinese people was detected by using multicolor melting curve analysis (MMCA) method, for those with negative results, the enzyme activity and clinical information were analyzed, sequencing was recommended after informed consent when it is necessary. RESULTS: Among 1321 patients, a total of 768 mutations were detected out, with a detection rate of 58.1%. A total of 18 types of G6PD genotypes were identified, including c.1388G>A, c.1376G>T, c.95G>A, c.1024C>T, c.871G>A, c.392G>T, c.487G>A, c.1360C>T, c.1004C>A, c.517T>C, c.592C>T, c.94C>G, c.152C>T, c.320A>G, c.1028A>G, c.1316G>A, c.1327G>C and c.1376G>C, including 683 male hemizygotes, 3 female homozygotes, 80 female heterozygotes and 2 female compound heterozygous. CONCLUSION: A total of 18 types of G6PD mutations are identified in the reaserch, and c.94C>G, c.1028A>G and c.1327G>C are first reported in Chinese population. The most common G6PD mutation types in Wuhan are c.1388G>A, c.1376G>T, c.95G>A.

[Hb Bart's Quantitative Analysis in the Screening of α-Thalassemia].

OBJECTIVE: To research the relationship between difference types of α-thalassemia gene types and Hb Bart's hemoglobin bands. METHODS: Capillary electrophoresis was used to screen thalassemia gene for the newborn form January 2020 to December 2020, and the thalassemia gene was detected by PCR or PCR-NGS in the positive patients. The relationship between α-thalassemia gene and Hb Bart's hemoglobin was compared and analyzed statistically. RESULTS: There were significant differences in Hb Bart's hemoglobin among the different α-thalassemia mutation types, Hb Bart's was the highest in --SEA/-α3.7 compound heterozygous mutation, then in --SEA/αα single heterozygous deletion type and in -α3.7/-α3.7，-α3.7/-α4.2compound heterozygous mutation, and in αqsα/αα, αcsα/αα single heterozygous point mutation, least in -α3.7/αα and -α4.2/αα single heterozygous deletion type. There were significant difference among the each groups. CONCLUSION: The Hb Bart's content of different genotypes of α-thalassemia are significantly different. The Hb Bart's content shows high application value in α-thalassemia screening and genotyping identification.