{"title":"印度东部UP人群贫血患者血红蛋白D变体的分子筛查","authors":"Rai, U. Yadav, P. Kumar, Mishra Op","doi":"10.26420/ANNHEMATOLONCOL.2021.1330","DOIUrl":null,"url":null,"abstract":"Hemoglobinopathy is the commonest inherited monogenic disorders, which are highly prevalent in India. The three most predominant hemoglobinopathies are HbS, HbE, the aim of the present study is to determine the frequency of HbD in Eastern UP population. After taking written consent, blood samples was collected from 350 individuals and genomic DNA was extracted from a the collected blood samples. PCR-RFP method was used to analyze the mutation. Out of 350 samples analyzed, one individual was heterozygous (HbD/N) and two individuals were homozygous (HbD/D) for Hb D mutation. In conclusion, the overall βD allele frequency in Eastern Uttar Pradesh was observed as 0.71%.","PeriodicalId":72219,"journal":{"name":"Annals of hematology & oncology","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2021-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Molecular Screening of Hemoglobin D Variant in Anemia Patients of Eastern UP Population, India\",\"authors\":\"Rai, U. Yadav, P. Kumar, Mishra Op\",\"doi\":\"10.26420/ANNHEMATOLONCOL.2021.1330\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Hemoglobinopathy is the commonest inherited monogenic disorders, which are highly prevalent in India. The three most predominant hemoglobinopathies are HbS, HbE, the aim of the present study is to determine the frequency of HbD in Eastern UP population. After taking written consent, blood samples was collected from 350 individuals and genomic DNA was extracted from a the collected blood samples. PCR-RFP method was used to analyze the mutation. Out of 350 samples analyzed, one individual was heterozygous (HbD/N) and two individuals were homozygous (HbD/D) for Hb D mutation. In conclusion, the overall βD allele frequency in Eastern Uttar Pradesh was observed as 0.71%.\",\"PeriodicalId\":72219,\"journal\":{\"name\":\"Annals of hematology & oncology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-03-05\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of hematology & oncology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.26420/ANNHEMATOLONCOL.2021.1330\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of hematology & oncology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.26420/ANNHEMATOLONCOL.2021.1330","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Molecular Screening of Hemoglobin D Variant in Anemia Patients of Eastern UP Population, India
Hemoglobinopathy is the commonest inherited monogenic disorders, which are highly prevalent in India. The three most predominant hemoglobinopathies are HbS, HbE, the aim of the present study is to determine the frequency of HbD in Eastern UP population. After taking written consent, blood samples was collected from 350 individuals and genomic DNA was extracted from a the collected blood samples. PCR-RFP method was used to analyze the mutation. Out of 350 samples analyzed, one individual was heterozygous (HbD/N) and two individuals were homozygous (HbD/D) for Hb D mutation. In conclusion, the overall βD allele frequency in Eastern Uttar Pradesh was observed as 0.71%.
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