A RARE CAUSE OF SIDEROBLASTIC ANEMIA: TRNT1 MUTATION

YILDIRIM, Fatma Tuba; Benderlioğlu, Elif; Kaçar, Dilek; Yaralı, Neşe

doi:10.1016/j.htct.2021.10.1000

Hematology, Transfusion and Cell Therapy

ISSN: 2531-1379

Hematology, Transfusion and Cell Therapy is a quarterly scientific publication of the Associação Brasileira de Hematologia, Hemoterapia e Terapia Celular (ABHH), Associazione Italo-Brasiliana di Ematologia (AIBE), Eurasian Hematology Oncology Group (EHOG), and Sociedade Brasileira de Oncologia Pediátrica (SOBOPE).

Hematology, Transfusion and Cell Therapy publishes original articles, review articles and case reports covering various areas in the field of hematology and hemotherapy. The journal was previously published, until 2016, as Revista Brasileira de Hematologia e Hemoterapia.

ISSN print: 2531-1379
ISSN online: 2531-1387

Published by Elsevier Editora Ltda, Rio de Janeiro, Brazil.

Indexed in:

Web of Science, LILACS, SciELO Brazil, ESCI (Web of Science), Scopus, and PubMed/PMC

tRNA nucleotidyltransferase 1(TRNT1) gene encodes a polymerase involved in the maturation of cytosolic and mitochondrial transfer RNAs. Autosomal recessive loss of function mutations of TRNT1 leads sideroblastic anemia, immunodeficiency, fevers and developmental delay at varying degrees. Here we present a 10-year-old girl with periodic fever, retinitis pigmentosa, B cell deficiency, seizures and transfusion free sideroblastic anemia due to compound heterozygote TRNT1 mutation.

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