Rare anemias from the group of congenital bone marrow failure syndromes.

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F18%3A73590110" target="_blank" >RIV/61989592:15110/18:73590110 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Rare anemias from the group of congenital bone marrow failure syndromes.

Original language description

This review summarizes the pathophysiology, genetic background and clinical symptoms of anemias belonging to the group of inherited bone marrow failure syndromes with unilineage failure of erythropoiesis. It sums up the current knowledge of three diseases: Diamond-Blackfan anemia, congenital dyserythropoietic anemia and Fanconi anemia whose pathophysiology was elucidated in detail during the last decade, owing to the rapid development of new molecular-genetic techniques, especially next-generation sequencing. Fanconi anemia is included in this overview because of macrocytosis and/or anemia detected in the majority of the patients before they develop bone marrow failure. The paper also aims at pointing out typical associated anomalies in these diseases which might be overlooked and which can lead to early diagnosis. Unfortunately, the correct diagnosis is often established later in adulthood and, in some cases, as late as at the time of manifestation of malignant disease. Accurate and timely diagnosis of these conditions is extremely important for the determination of appropriate treatment approach, diagnosis of affected family members (especially in the process of bone marrow donor search), and genetic counselling, which can substantially influence the prognosis of these diseases. Key words: congenital dyserythropoietic anemia - Diamond-Blackfan anemia - DNA repair - dyserythropoiesis - Fanconi anemia - inherited bone marrow failure - ribosomopathies.

Czech name

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Czech description

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Type

J_SC - Article in a specialist periodical, which is included in the SCOPUS database

CEP classification

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OECD FORD branch

30209 - Paediatrics

Project

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Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2018

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Vnitrni Lekarstvi

ISSN

0042-773X

e-ISSN

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Volume of the periodical

64

Issue of the periodical within the volume

5

Country of publishing house

CZ - CZECH REPUBLIC

Number of pages

13

Pages from-to

488-500

UT code for WoS article

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EID of the result in the Scopus database

2-s2.0-85063664980