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

medRxiv - Hematology Pub Date : 2024-09-04 DOI:10.1101/2024.09.03.24312976

Satarupta Basu, Soma Gupta, Rajib De, Shuvra Neel Baul, Aditi Sen, Shreyashi Dasgupta, Arindam Biswas

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引用次数: 0

摘要

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。

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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.

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medRxiv - Hematology

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