一名55岁患有RPL11突变的患者发生的具有极晚发和致命性再生障碍的先天性纯红细胞再生障碍性贫血。 - Suppr

Diamond-Blackfan anemia with very late and fatal onset aplasia in a 55-year-old patient with RPL11 mutation.

作者信息

Strasser Bernhard, Heibl Sonja, Hörmann Gregor, Haushofer Alexander

机构信息

Institute of Clinical Chemistry and Laboratory Medicine, Hospital Wels-Grieskirchen, Grieskirchnerstraße 42, Wels, 4600, Austria.

Institute of Internal Medicine IV, Hospital Wels-Grieskirchen, Wels, Austria.

出版信息

Ann Hematol. 2024 Mar;103(3):1011-1012. doi: 10.1007/s00277-023-05553-3. Epub 2023 Nov 23.

DOI:10.1007/s00277-023-05553-3

PMID:37993587

Abstract

摘要

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Diamond-Blackfan anemia with very late and fatal onset aplasia in a 55-year-old patient with RPL11 mutation.一名55岁患有RPL11突变的患者发生的具有极晚发和致命性再生障碍的先天性纯红细胞再生障碍性贫血。

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Am J Case Rep. 2022 Jan 17;23:e932649. doi: 10.12659/AJCR.932649.

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Adult-onset Diamond-Blackfan anemia with a novel mutation in the exon 5 of RPL11: too late and too rare.成人期发病的戴蒙德-布莱克范贫血伴核糖体蛋白L11第5外显子新突变：为时已晚且极为罕见。

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Diamond-Blackfan anemia with very late and fatal onset aplasia in a 55-year-old patient with RPL11 mutation.

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