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[新生儿钻石-布莱克芬贫血:一个病例报告]

Hong-Ling Wei¹, Tong-Yan Han¹, Xiao-Hui Zhu

¹Department of Pediatrics, Peking University Third Hospital, Beijing 100191, China.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

|October 22, 2025

概括

这份病例报告详细介绍了一名新生儿被诊断患有由于RPS19基因变异而导致的钻石-黑贫血. 早期诊断和管理导致血红蛋白和网细胞数量在两岁时正常.

科学领域:

儿科儿科儿科
遗传学是一个遗传学.
血液学血液学血液学

背景情况:

钻石-布莱克芬贫血 (DBA) 是一种罕见的遗传性骨髓衰竭综合征.
DBA通常在婴儿期出现严重的贫血和身体异常.
遗传变异,特别是像RPS19这样的核糖体蛋白质基因,是病因.

研究的目的:

报告新生儿早期发病的严重贫血病例.
为了强调钻石-布莱克芬贫血的遗传诊断.
扩大对DBA的表型谱的理解.

主要方法:

新生儿的临床表现和身体检查.
实验室检查包括血红蛋白和骨髓检查.
整体外基因组测序以识别RPS19基因中的致病变体.

主要成果:

新生儿出现了严重的贫血 (血红蛋白44 g/L) 和低可塑性骨髓.
整个外体序列测定揭示了一种异合致病性RPS19变体 (c.175T>C).
患者在2岁2个月时达到正常的血红蛋白和网细胞计数.

结论:

这一病例证实了新生儿患有严重呈现的基因确诊的钻石-布莱克芬贫血.
这些发现有助于已知的DBA的表型谱.
早期诊断和管理对于DBA的良好结果至关重要.

关键词:

贫血贫血是一种疾病.钻石-黑色的粉丝新生儿新生儿新生儿这是RPS19基因.

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