The Czech National Diamond-Blackfan Anemia Registry: Clinical data and ribosomal protein mutations update

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F12%3A7989" target="_blank" >RIV/00064203:_____/12:7989 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/12:7989 RIV/65269705:_____/12:#0001653 RIV/00179906:_____/12:10124858 RIV/00023736:_____/12:00009618 RIV/00669806:_____/12:10124858
Result on the web
<a href="http://dx.doi.org/10.1016/j.bcmd.2012.02.002" target="_blank" >http://dx.doi.org/10.1016/j.bcmd.2012.02.002</a>
DOI - Digital Object Identifier
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Result language
angličtina
Original language name
The Czech National Diamond-Blackfan Anemia Registry: Clinical data and ribosomal protein mutations update
Original language description
Diamond-Blackfan anemia is a rare inherited bone marrow failure syndrome diagnosed in early infancy that is characterized by a (a) macrocytic anemia with no other significant cytopenia, (b) reticulocytopenia, and (c) normal bone marrow cellularity with apaucity of erythroid precursors. Physical anomalies are often present. Mutations in several ribosomal proteins have been associated with the disease. Here we present a detailed description of 39 patients from 34 families enrolled in the Czech National Diamond-Blackfan Anemia Registry. Erythrocyte adenosine deaminase activity and serum erythropoietin levels were measured and bone marrow analysis and clonogenic assays were carried out. Twenty-two different ribosomal proteins were sequenced. We identifiedmutations in five different ribosomal proteins in 28/39 patients (71.8%) from 23/34 families (67.6%). Several new mutations are described. The most interesting data relate to genotype-phenotype correlations. All patients with ribosomal p
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FD - Oncology and haematology
OECD FORD branch
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Project
<a href="/en/project/NT11059" target="_blank" >NT11059: Diamond-Blackfan anaemia: molecular-genetic analysis of ethiopathogenetic factors, analysis of their influence on prognosis and treatment.</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2012
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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