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一个马来人患者的新型HBB:c.375_376delAC突变HbEβ-thalassemia中间:一个病例报告

Nur Aisyah Aziz^1,2, Ernie Zuraida Ali³, Mohd Khairul Nizam Mohd Khalid³

¹Hematology Unit, Cancer Research Center (CaRC), Institute for Medical Research (IMR), National Institute of Health (NIH), Ministry of Health (MOH), Shah Alam, Selangor, Malaysia.

|October 1, 2025

概括

在马来西亚发现了一种新型的血红蛋白Eβ-thalassemia (HbE-BT) 突变. 这一发现有助于理解HbE-BTT.

科学领域:

遗传学遗传学是一个
血液学血液学血液学
分子生物学分子生物学

背景情况:

血红蛋白Eβ-thalassemia (HbE-BT) 是马来西亚常见的一种遗传性血液疾病,具有多种遗传原因.
识别新突变对于理解HbE-BT.的临床变异性和遗传异质性至关重要.

研究的目的:

在患有HbE-BT的患者中报告一种新的突变.
突出复杂的HbE-BT病例中的诊断和管理挑战.
为了解马来西亚HbE-BT遗传环境做出贡献.

主要方法:

进行了包括桑格测序在内的全面DNA分析.
毛细管电泳用于血红蛋白分析.
使用预测计算工具来评估变体的病原性.

主要成果:

确定了HbE的复合异质合体状态和一个新的HBB:c.375_376delAC框架转移突变.
患者经历了转血依赖的进展,并发展出包括铁过载和切术后败血症在内的并发症.
新型变种的致病性得到了计算分析的支持,并提交到ITHANET数据库.

结论:

这种新型组合异构性化合物的鉴定扩大了马来西亚HbE-BT已知的遗传谱.
综合的分子分析对于准确诊断和有效管理血症综合征至关重要.
这一案例强调了遗传咨询的重要性,并突出了与thalassemia患者的脊髓切除术相关的风险.

关键词:

这是一种HbEβ-thalassemia.马来西亚马来西亚马来西亚分子诊断分子诊断分子诊断新型的框架转移突变

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