Identification and treatment of late onset Fanconi's anemia

Cytogenetic Unit, Elena d'Aosta Hospital, Naples, Italy. We diagnosed Fanconi's anemia (FA) in a 34-year-old lady, daughter of consanguineous parents, from a small Southern Italian town. The patient was pancytopenic when she was 31, and was found to be aplastic at the age of 34. Spontaneou...

Full description

Saved in:
Bibliographic Details
Published in:Haematologica (Roma) 1995-11, Vol.80 (6), p.535-538
Main Authors: Zatterale, A, Calzone, R, Renda, S, Catalano, L, Selleri, C, Notaro, R, Rotoli, B
Format: Article
Language:English
Subjects:
Adult
Age of Onset
Biological and medical sciences
Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...)
Danazol - therapeutic use
Fanconi Anemia - diagnosis
Fanconi Anemia - drug therapy
Female
Humans
Medical genetics
Medical sciences
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Cytogenetic Unit, Elena d'Aosta Hospital, Naples, Italy. We diagnosed Fanconi's anemia (FA) in a 34-year-old lady, daughter of consanguineous parents, from a small Southern Italian town. The patient was pancytopenic when she was 31, and was found to be aplastic at the age of 34. Spontaneous chromosomal breakages were not evident in peripheral blood lymphocyte cultures but the diepoxybutane (DEB) test, carried out during the aplastic phase, was clearly positive. Danazol treatment significantly improved her hematological condition, yielding a Hb peak value of 13.4 g/dL. Four years later moderate pancytopenia has recurred. This case demonstrates that even adult pancytopenic patients may have FA and that a test detecting chromosomal hypersensitivity to cross-linking agents is the only key to a correct diagnosis, which in turn is essential to avoid improper treatment.
ISSN:0390-6078
1592-8721