{"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}
引用次数: 0
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%.
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