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在HbA≤15%的新生儿中检测β-血病突变,使用毛细管电泳和分子分析

Shreshta S Prabhan¹, Meenakshi Bothra², Sakshi Agarwal¹

¹Department of Pediatrics, Maulana Azad Medical College, New Delhi, India.

Fetal and pediatric pathology

|February 1, 2026

概括

在新生儿中早期查β-血症至关重要. 12.4%的最佳血红蛋白A (HbA) 截止值有助于识别受影响的婴儿及时进行干预.

科学领域:

遗传学遗传学是一个
新生儿医学新生儿医学
公共卫生公共卫生

背景情况:

贝塔thalassemia是一个普遍的单一性疾病在印度.
新生儿检测受到高胎儿血红蛋白水平的阻碍.
早期识别对于有效的管理和预防至关重要.

研究的目的:

确定 HbA ≤15% 的新生儿中β-环球蛋白基因突变的流行率.
为了建立一个最佳的HbA切断值新生儿查.
提高对新生儿β-thalassemia的早期检测率.

主要方法:

一项横截面研究涉及2600名新生儿,通过毛细管电泳检查进行查.
具有HbA≤15%的新生儿接受了父母查 (HPLC) 和遗传确认 (ARMS-PCR,测序).
数据从2020年1月到2021年10月在德里两个三级医院收集.

主要成果:

在父母同意的91名新生儿中,15.4% (14) 患有β-环球蛋白基因突变,主要是IVS 1-5(G→C).
接收器操作特征 (ROC) 分析发现HbA最佳切线≤12.4%.
这种切线表明对突变检测具有93%的灵敏度和56%的特异性.

结论:

出生时HbA水平≤12.4%作为一个有效的查值.
这一门有助于在新生儿中早期识别β-thalassemia.
及时查可以提供关键的遗传咨询和预防策略.

关键词:

贝塔沙拉西米亚贝塔沙拉西米亚在 HbA 截止时限.在HbA的百分比上,HbA的百分比.毛细血管电泳毛细血管电泳新生儿查新生儿查

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