{"title":"东部北方邦贫血患者血红蛋白S变异的分子筛选","authors":"R. V, Y. U, K. P","doi":"10.26420/jblooddisordl.2021.1064","DOIUrl":null,"url":null,"abstract":"More than 700 hemoglobinopathies are reported globally. In India, the most predominant hemoglobinopathies are HbS, and HbE. The objective of the present study was to determine the frequency of HbS in Eastern Uttar Pradesh population. The written consent was taken from each subject. 3 ml blood samples was collected from 350 selected anemic patients and genomic DNA was extracted from all the 350 collected blood samples. HbS mutation was analysed by PCR-RFLP method. Out of 350 samples analyzed, four individual was heterozygous (HbS/N) and one individuals were homozygous (HbS/S) for Hb S mutation. In conclusion, the overall βS allele frequency in Eastern Uttar Pradesh was observed as 0.86%.","PeriodicalId":73627,"journal":{"name":"Journal of blood disorders & transfusion","volume":"18 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2021-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Molecular Screening of Hemoglobin S Variant in Anemia Patients of Eastern UP Population\",\"authors\":\"R. V, Y. U, K. P\",\"doi\":\"10.26420/jblooddisordl.2021.1064\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"More than 700 hemoglobinopathies are reported globally. In India, the most predominant hemoglobinopathies are HbS, and HbE. The objective of the present study was to determine the frequency of HbS in Eastern Uttar Pradesh population. The written consent was taken from each subject. 3 ml blood samples was collected from 350 selected anemic patients and genomic DNA was extracted from all the 350 collected blood samples. HbS mutation was analysed by PCR-RFLP method. Out of 350 samples analyzed, four individual was heterozygous (HbS/N) and one individuals were homozygous (HbS/S) for Hb S mutation. In conclusion, the overall βS allele frequency in Eastern Uttar Pradesh was observed as 0.86%.\",\"PeriodicalId\":73627,\"journal\":{\"name\":\"Journal of blood disorders & transfusion\",\"volume\":\"18 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-11-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of blood disorders & transfusion\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.26420/jblooddisordl.2021.1064\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of blood disorders & transfusion","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.26420/jblooddisordl.2021.1064","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Molecular Screening of Hemoglobin S Variant in Anemia Patients of Eastern UP Population
More than 700 hemoglobinopathies are reported globally. In India, the most predominant hemoglobinopathies are HbS, and HbE. The objective of the present study was to determine the frequency of HbS in Eastern Uttar Pradesh population. The written consent was taken from each subject. 3 ml blood samples was collected from 350 selected anemic patients and genomic DNA was extracted from all the 350 collected blood samples. HbS mutation was analysed by PCR-RFLP method. Out of 350 samples analyzed, four individual was heterozygous (HbS/N) and one individuals were homozygous (HbS/S) for Hb S mutation. In conclusion, the overall βS allele frequency in Eastern Uttar Pradesh was observed as 0.86%.
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