<abstract xmlns="http://www.w3.org/1999/xhtml"> 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.</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.

Fanconi Anemia — Case Report of Rare Aplastic Anemia at Child

Department of Medical and Surgical Specialties, Faculty of Medicine, Transilvania University, Brașov, Romania

Faculty of Medicine, University Medicine and Pharmacy, Craiova, Romania

Acta Marisiensis - Seria Medica

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.

{"article-title":"Fanconi Anemia \u2014 Case Report of Rare Aplastic Anemia at Child"}

Introduction: Fanconi anemia is an autosomal recessive disease characterized by congenital abnormalities, defective haematopoiesis, and a high risk of...

Fanconi Anemia — Case Report of Rare Aplastic Anemia at Child

Publicado en línea: 02 jul 2014

Páginas: 125 - 128

Recibido: 17 abr 2012

Aceptado: 02 jun 2014

DOI: https://doi.org/10.2478/amma-2014-0027

Palabras clave
Fanconi anemia, pancytopenia, thrombocytopenia, chromosomal instability, FANC genes

© 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.

Fanconi Anemia — Case Report of Rare Aplastic Anemia at Child

Publicado en línea: 02 jul 2014

Páginas: 125 - 128

Recibido: 17 abr 2012

Aceptado: 02 jun 2014

DOI: https://doi.org/10.2478/amma-2014-0027

Palabras claveFanconi anemia, pancytopenia, thrombocytopenia, chromosomal instability, FANC genes

© 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.

Palabras clave
Fanconi anemia, pancytopenia, thrombocytopenia, chromosomal instability, FANC genes