Satarupta Basu, Soma Gupta, Rajib De, Shuvra Neel Baul, Aditi Sen, Shreyashi Dasgupta, Arindam Biswas
{"title":"HBA 基因常见缺失突变（- α3.7 和 - α4.2 kb）的检测及基因型与表型的相关性","authors":"Satarupta Basu, Soma Gupta, Rajib De, Shuvra Neel Baul, Aditi Sen, Shreyashi Dasgupta, Arindam Biswas","doi":"10.1101/2024.09.03.24312976","DOIUrl":null,"url":null,"abstract":"<strong>Background and Objectives</strong> Microcytic hypochromic anemia is the most common feature of alpha-thalassemia and depends on the number of alpha genes deleted. Therefore, in this study, we aim to determine the most common deletion mutations among microcytic anemia cases of West Bengal and correlate them with different biochemical parameters and endophenotypes.","PeriodicalId":501203,"journal":{"name":"medRxiv - Hematology","volume":"2 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Detection of Common Deletion Mutations (− α3.7 and − α4.2 kb) in HBA gene and Genotype-Phenotype Correlation\",\"authors\":\"Satarupta Basu, Soma Gupta, Rajib De, Shuvra Neel Baul, Aditi Sen, Shreyashi Dasgupta, Arindam Biswas\",\"doi\":\"10.1101/2024.09.03.24312976\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<strong>Background and Objectives</strong> Microcytic hypochromic anemia is the most common feature of alpha-thalassemia and depends on the number of alpha genes deleted. Therefore, in this study, we aim to determine the most common deletion mutations among microcytic anemia cases of West Bengal and correlate them with different biochemical parameters and endophenotypes.\",\"PeriodicalId\":501203,\"journal\":{\"name\":\"medRxiv - Hematology\",\"volume\":\"2 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-09-04\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"medRxiv - Hematology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1101/2024.09.03.24312976\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"medRxiv - Hematology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1101/2024.09.03.24312976","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Detection of Common Deletion Mutations (− α3.7 and − α4.2 kb) in HBA gene and Genotype-Phenotype Correlation
Background and Objectives Microcytic hypochromic anemia is the most common feature of alpha-thalassemia and depends on the number of alpha genes deleted. Therefore, in this study, we aim to determine the most common deletion mutations among microcytic anemia cases of West Bengal and correlate them with different biochemical parameters and endophenotypes.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
