Work

Fanconi Anemia — Case Report of Rare Aplastic Anemia at Child

Year: 2014

Type: article

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.

Source: Acta Marisiensis. Seria Medica

DOI: 10.2478/amma-2014-0027

Authors: Alina Deaconu, Daniela Vodă, D. Bulucea

Institutions: Transilvania University of Brașov, University of Medicine and Pharmacy of Craiova, University of Craiova

Language: English

Topic: Blood disorders and treatments

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W2079296182

FWCI: 0.212

Cites: 22

Cited by: 3

Related to: 10