Biallelic <i>IARS2</i> mutations presenting as sideroblastic anemia
نویسندگان
چکیده
منابع مشابه
Sideroblastic anemia.
When first defined 50 years ago, sideroblastic anemia (SA) was already recognized to occur in heterogeneous settings, including as familial or acquired disease. The spectrum of SA has since become considerably expanded with respect to distinct clinical phenotypes as well as discrete causes. The singular feature that typifies all forms of SA and is required for initial diagnosis is the presence ...
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The WD40-containing E3 ubiquitin ligase RFWD3 has been recently linked to the repair of DNA damage by homologous recombination (HR). Here we have shown that an RFWD3 mutation within the WD40 domain is connected to the genetic disease Fanconi anemia (FA). An individual presented with congenital abnormalities characteristic of FA. Cells from the patient carrying the compound heterozygous mutation...
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UNLABELLED Deficiency in BRCA-dependent DNA interstrand crosslink (ICL) repair is intimately connected to breast cancer susceptibility and to the rare developmental syndrome Fanconi anemia. Bona fide Fanconi anemia proteins, BRCA2 (FANCD1), PALB2 (FANCN), and BRIP1 (FANCJ), interact with BRCA1 during ICL repair. However, the lack of detailed phenotypic and cellular characterization of a patient...
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Isoniazid induced sideroblastic anemia is a rare event. We report case of a 45 year old Caucasian women with development of severe anaemia 4 month after introduction of Isoniazid as part of Tuberculosis treatment. While haemoglobin fell to 47 g/L and erythrocyte count to 1.5 G/L, reticulocytes were very low (reticulocyte production index of 0.48), but bone marrow aspirate showed an accelerated ...
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ژورنال
عنوان ژورنال: Haematologica
سال: 2020
ISSN: 1592-8721,0390-6078
DOI: 10.3324/haematol.2020.270710