{"title":"印度北方邦东部人群贫血患者血红蛋白E变异的分子筛选","authors":"R. V, Y. U, K. P","doi":"10.26420/austinhematol.2021.1042","DOIUrl":null,"url":null,"abstract":"Hemoglobinopathy is one of the most common monogenic disorders. This is prevalent in South East Asia. More than 700 heboglobinopathies are reported worldwide, out of which HbS and HbE are also prevalent in India. The objective of the present study is to determine the frequency of HbE in Eastern UP population. After taking written consent, blood samples was collected from 350 individuals and genomic DNA was extracted from all the collected blood samples. PCR-RFP method was used to analyze the HbE mutation. Out of 350 samples analyzed, one individual was Heterozygous (HbE/N) and one individual was Homozygous (HbE/E) for HbE mutation. In conclusion, the βE allele frequency was observed as 0.42% in Eastern UP population. Percentage of both heterozygous and homozygous genotypes were 0.28%.","PeriodicalId":401162,"journal":{"name":"Austin Hematology","volume":"61 24","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2021-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Molecular Screening of Hemoglobin E Variant in Anemia Patients of Eastern UP Population, India\",\"authors\":\"R. V, Y. U, K. P\",\"doi\":\"10.26420/austinhematol.2021.1042\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Hemoglobinopathy is one of the most common monogenic disorders. This is prevalent in South East Asia. More than 700 heboglobinopathies are reported worldwide, out of which HbS and HbE are also prevalent in India. The objective of the present study is to determine the frequency of HbE in Eastern UP population. After taking written consent, blood samples was collected from 350 individuals and genomic DNA was extracted from all the collected blood samples. PCR-RFP method was used to analyze the HbE mutation. Out of 350 samples analyzed, one individual was Heterozygous (HbE/N) and one individual was Homozygous (HbE/E) for HbE mutation. In conclusion, the βE allele frequency was observed as 0.42% in Eastern UP population. Percentage of both heterozygous and homozygous genotypes were 0.28%.\",\"PeriodicalId\":401162,\"journal\":{\"name\":\"Austin Hematology\",\"volume\":\"61 24\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-11-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Austin Hematology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.26420/austinhematol.2021.1042\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Austin Hematology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.26420/austinhematol.2021.1042","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Molecular Screening of Hemoglobin E Variant in Anemia Patients of Eastern UP Population, India
Hemoglobinopathy is one of the most common monogenic disorders. This is prevalent in South East Asia. More than 700 heboglobinopathies are reported worldwide, out of which HbS and HbE are also prevalent in India. The objective of the present study is to determine the frequency of HbE in Eastern UP population. After taking written consent, blood samples was collected from 350 individuals and genomic DNA was extracted from all the collected blood samples. PCR-RFP method was used to analyze the HbE mutation. Out of 350 samples analyzed, one individual was Heterozygous (HbE/N) and one individual was Homozygous (HbE/E) for HbE mutation. In conclusion, the βE allele frequency was observed as 0.42% in Eastern UP population. Percentage of both heterozygous and homozygous genotypes were 0.28%.
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