Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.
Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.
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DOI：
10.1097/mph.0000000000000587
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发表时间：
2016-10
期刊：
影响因子：
--
通讯作者：
Tamary H
中科院分区：
文献类型：
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作者：
Steinberg-Shemer O;Keel S;Dgany O;Walsh T;Noy-Lotan S;Krasnov T;Yacobovich J;Quarello P;Ramenghi U;King MC;Shimamura A;Tamary H
钻石-布莱克凡贫血（DBA）是一种遗传性综合征，通常表现为婴儿期严重的大红细胞贫血、骨髓中红系前体细胞缺乏和先天性异常。我们描述了一个孩子与轻度，输血非依赖性正常红细胞性贫血的DBA的诊断建立了一个新的从头突变破坏核糖体蛋白RPL 5的正常剪接的鉴定。DBA的诊断通过红细胞腺苷脱氨酶水平升高和核糖体RNA谱异常得到证实。这个病例证明了基因组分析在诊断非经典表现的DBA患者中的有用性。
Diamond Blackfan anemia (DBA) is an inherited syndrome usually presenting with severe macrocytic anemia in infancy, paucity of erythroid precursors in the bone marrow, and congenital anomalies. We describe a child with mild, transfusion independent normocytic anemia whose diagnosis of DBA was established by identification of a novel de novo mutation disrupting normal splicing of the ribosomal protein RPL5. The diagnosis of DBA was confirmed by elevated erythrocyte adenosine deaminase levels and an abnormal ribosomal RNA profile. This case demonstrates the usefulness of genomic analysis in establishing the diagnosis of DBA in patients with a nonclassical presentation of the disease.