印度北方邦东部 Beta-Thalassemia 和镰状细胞病的遗传概况。

IF 1.7 4区医学 Q2 PEDIATRICS Indian pediatrics Pub Date : 2024-12-15 Epub Date: 2024-09-10

Priyanka Aggarwal, Akhtar Ali, Vineeta Gupta

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引用次数: 0

摘要

我们报告了 133 名 beta 型地中海贫血症患儿和 23 名镰状细胞病（SCD）患儿血红蛋白亚基 beta（HBB）基因中不同突变的发生率，这些患儿大多来自北方邦（UP）、恰尔康得邦（Jharkhand）、恰蒂斯加尔邦（Chhattisgarh）和比哈尔邦（Bihar）。IVS 1-5 是最常见的突变（42 例），其次是 CD41/42（4 例）和 CD8/9（4 例）。值得注意的是，一些突变如 c.47G>A、c.51del 和 c.123delT 以前未在印度北方邦报告过。

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Genetic Profile of Beta-Thalassemia and Sickle Cell Disease in Eastern Uttar Pradesh.

We report the prevalence of different mutations in the hemoglobin subunit beta (HBB) gene of 133 children with beta-thalassemia and 23 children with sickle cell disease (SCD), most of them belonging to the states of Uttar Pradesh (UP), Jharkhand, Chhattisgarh and Bihar. IVS 1-5 was the most common mutation (n = 42) followed by CD41/42 (n = 4) and CD8/9 (n = 4). Notably, some mutations like c.47G>A, c.51del and c.123delT not previously reported from UP were found.

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来源期刊

Indian pediatrics 医学-小儿科

CiteScore

3.30

自引率

8.70%

发文量

344

审稿时长

3-8 weeks

期刊介绍： The general objective of Indian Pediatrics is "To promote the science and practice of Pediatrics." An important guiding principle has been the simultaneous need to inform, educate and entertain the target audience. The specific key objectives are: -To publish original, relevant, well researched peer reviewed articles on issues related to child health. -To provide continuing education to support informed clinical decisions and research. -To foster responsible and balanced debate on controversial issues that affect child health, including non-clinical areas such as medical education, ethics, law, environment and economics. -To achieve the highest level of ethical medical journalism and to produce a publication that is timely, credible and enjoyable to read.