在印度中部的一个病例中,罕见的血红蛋白D-伊朗和血红蛋白S共存
Priya Rani1, Amol Moon1, Umesh Dhumne1
1ICMR-Centre for Research, Management and Control of Haemoglobinopathies, Chandrapur, India.
Hemoglobin
|December 21, 2025
概括
这项研究报告了印度首例患者共存的血红蛋白D-伊朗 (Hb D-Iran) 和血红蛋白S (HbS) 的病例. 分子诊断对于识别这些罕见的血红蛋白变异至关重要.
科学领域:
- 血液学 血液学 血液学
- 医学遗传学 医学遗传学
- 分子诊断学 分子诊断
背景情况:
- 血红蛋白D-伊朗 (Hb D-Iran) 是一种罕见的结构性血红蛋白病,主要记录在伊朗和巴基斯坦,印度报告有限.
- Hb D-Iran与其他血红蛋白变体 (如HbS) 的共存可能会使染色体分析的解释复杂化,特别是在异合体状态下,它通常在临床上是无声的.
- 准确识别不常见的血红蛋白变体是必不可少的,特别是在基因多样化的种群中,它们可能会模仿更常见的模式.
研究的目的:
- 报告印度第一个有记录的患有血红蛋白D-Iran (Hb D-Iran) 和血红蛋白S (HbS) 同时存在的患者病例.
- 突出罕见的血红蛋白变体所带来的诊断挑战以及分子方法对准确表征的重要性.
- 要强调先进的分子诊断技术在识别复杂的血红蛋白病变中的临床实用性.
主要方法:
- 毛细电泳高性能液体染色学 (CE-HPLC) 用于初始查,揭示了HbA2和HbS窗口中的异常峰值.
- 使用放大阻抗突变系统-聚合酶链反应 (ARMS-PCR) 证实异合的HbS突变 (HBB:c.20A>T).
- 为了确定分子特征,进行了桑格测序,确定了Hb D-Iran (HBB:c.67G>C) 和HbS突变. 排除了其他常见变体,如HbE和Lepore疾病.
主要成果:
- 一位来自印度中部的40岁女性在CE-HPLC上呈现出HbA2 (43.5%) 和HbS (43.4%) 的水平升高.
- 分子分析证实了异构HbS和Hb D-Iran.Iran的存在.
- 该患者在临床上无症状,母亲查发现异合的Hb D-Iran.
结论:
- 这一案例代表了印度首次记录出Hb D-Iran和HbS共存的案例.
- 这些发现强调了分子诊断技术 (如ARMS-PCR和桑格测序) 在准确区分可能在常规查中呈现异常的罕见血红蛋白变体方面的关键作用.
- 准确的遗传咨询和诊断对于被发现具有复杂血红蛋白变异的人来说至关重要,特别是在血红蛋白病发病率高的地区.
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