罗斯柴尔德hb的第一个症状儿童病例 (HBB:c.112T>C,p.Trp38Arg):低氧 afinity 血红蛋白呈现与持久的伪氧氧症
Ekaterina Nuzhnaya1, Andrey Marakhonov1, Artem Ivanov2
1Federal State Budgetary Institution, Research Centre for Medical Genetics, 1 Moskvorechye Street, Moscow 115522, Russia.
Diagnostics (Basel, Switzerland)
|December 30, 2025
概括
罗斯柴尔德血红蛋白 (Hb Rothschild) 是一种罕见的变体,尽管血液中的氧气水平正常,但导致外周氧和率低. 这一案例突出了儿童的症状表现,强调需要进行基因检测,以避免误诊.
科学领域:
- 遗传学和分子生物学
- 儿科血液学 儿科血液学
- 临床诊断 临床诊断 临床诊断
背景情况:
- 罗斯柴尔德血红蛋白 (Hb Rothschild),一种NM_000518.5(HBB):c.112T>C变体,是一种极为罕见的血红蛋白病变.
- 它在脉冲氧计上导致持续低的外周氧和度 (SpO2),与真正的低氧症无关.
- 以前报告的病例很少见,只有一个无症状的儿科携带者被确定.
研究的目的:
- 报告第一个患有血红蛋白罗斯柴尔德症状的儿科病例.
- 描述临床表现,诊断工作和遗传发现.
- 为了扩大对Hb Rothschild在儿童中的临床谱的理解.
主要方法:
- 进行了临床检查,生长评估,血液检查,血红蛋白电泳,胸部CT,腹部超声波,心声和肺 perfusion 扫描.
- 实验对象和父母的全基因组测序 (WGS) 进行了.
- 使用了生物信息分析,基于ACMG的变体解释和PRISMA引导的PubMed文献评论.
主要成果:
- 一名4岁的男孩出现了慢性低SpO2 (78-86%) 和复发性呼吸道感染,以及呼吸暂停和蓝色病史.
- 广泛的心肺评估是正常的,动脉血液气体分析证实了正常的PaO2,排除了低氧症.
- 在WGS中,他发现了从父亲遗传的异合体NM_000518.5(HBB):c.112T>C变异,该变异降低了血红蛋白的氧亲和力.
结论:
- 这一案例表明,罗斯柴尔德血红蛋白可以在儿童早期呈现症状.
- 对低亲和度血红蛋白变体的认识对于准确诊断和防止不必要的干预至关重要.
- 早期遗传检测对于诊断,咨询和管理罗斯柴尔德肝炎至关重要.
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