Adult-onset Diamond-Blackfan anemia with a novel mutation in the exon 5 of RPL11: too late and too rare

被引：13

作者：

Flores Ballester, Elena ^{[1
]}

Jose Gil-Fernandez, Juan ^{[1
]}

Vazquez Blanco, Miguel ^{[2
]}

Mesa, Jose M. ^{[3
]}

Garcia, Juan de Dios ^{[3
]}

Tamayo, Ana T. ^{[1
]}

Burgaleta, Carmen ^{[1
]}

机构：

[1] Hosp Univ Principe Asturias, Dept Hematol, Madrid, Spain

[2] Hosp Univ Principe Asturias, Dept Ophthalmol, Madrid, Spain

[3] Hosp Univ Principe Asturias, Dept Genet, Madrid, Spain

来源：

CLINICAL CASE REPORTS | 2015年 / 3卷 / 06期

关键词：

Diamond-Blackfan anemia; pure red cell aplasia; RPL11; mutations;

D O I：

10.1002/ccr3.240

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia usually diagnosed in the early infancy and associated with mutations or large deletions in 11 ribosomal protein (RP) genes. Adult patients with severe, transfusion dependence, aregenerative anemia might have a genetic-in-origin disease with an atypical presentation. Late onset nonclassical DBA should be ruled out and mutations of RP genes studied.

引用

页码：392 / 395

页数：4

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