Detection of Common Deletion Mutations (− α3.7 and − α4.2 kb) in HBA gene and Genotype-Phenotype Correlation

Satarupta Basu, Soma Gupta, Rajib De, Shuvra Neel Baul, Aditi Sen, Shreyashi Dasgupta, Arindam Biswas
{"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}
引用次数: 0

Abstract

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.
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
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
背景和目的 小红细胞低色素性贫血是α-地中海贫血最常见的特征,取决于α基因缺失的数量。因此,在本研究中,我们旨在确定西孟加拉邦小红细胞性贫血病例中最常见的缺失突变,并将其与不同的生化指标和内表型相关联。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
自引率
0.00%
发文量
0
期刊最新文献
Machine Learning Insights into HLA Noncoding Sequence Mismatches and Their Impact on DPB1 Matching in Hematopoietic Cell Transplantation Comparison of haemoglobin concentration measurements using HemoCue-301 and Sysmex XN-Series 1500: a survey among anaemic Gambian infants aged 6-12 months Detection of Common Deletion Mutations (− α3.7 and − α4.2 kb) in HBA gene and Genotype-Phenotype Correlation Multi-omic and functional screening reveal targetable vulnerabilities in TP53 mutated multiple myeloma Evaluating the Therapeutic Effects of Amino Acid Treatment on Vaso-Occlusive Pain in Sickle Cell Disease: A Systematic Review and Meta-Analysis Protocol
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1