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Acta Medica Marisiensis

The Journal of The University of Medicine and Pharmacy of Targu-Mures

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Online
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2247-6113
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Fanconi Anemia — Case Report of Rare Aplastic Anemia at Child

Alina Deaconu / Daniela Vodă
  • Department of Medical and Surgical Specialties, Faculty of Medicine, Transilvania University, Brașov, Romania
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ D. Bulucea
Published Online: 2014-07-02 | DOI: https://doi.org/10.2478/amma-2014-0027

Abstract

Introduction: Fanconi anemia is an autosomal recessive disease characterized by congenital abnormalities, defective haematopoiesis, and a high risk of developing acute myeloid leukaemia, myelodysplastic syndrome and cancers. FA was first described in 1927 by the Swiss pediatrician Guido Fanconi. The diagnosis is based on morphological abnormalities, hematologic abnormalities (pancytopenia, macrocytic anemia and progressive bone marrow failure) and genetic tests (cariograma).

Case report: We present the case of a child with Fanconi anemia. Although skin and bone morphological abnormalities were present from birth, diagnosis was suspected at 11 years old.

Conclusions: Fanconi anemia is a heterogeneous condition that can present a variety of congenital defects but invariably results in defective haemopoiesis, which is the major cause of morbidity and mortality.

Keywords: Fanconi anemia; pancytopenia; thrombocytopenia; chromosomal instability; FANC genes

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About the article

Received: 2012-04-17

Accepted: 2014-06-02

Published Online: 2014-07-02

Published in Print: 2014-06-01


Citation Information: Acta Medica Marisiensis, ISSN (Online) 2247-6113, DOI: https://doi.org/10.2478/amma-2014-0027.

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© by Alina Deaconu. This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. BY-NC-ND 3.0

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