Variable Response to the Diepoxybutane Test in two Dizygotic Twins with Fanconi's Anemia and Flow Cytometry for Diagnosis Confirmation

Fanconi's anemia (FA) is a rare, genetically heterogeneous, autosomal recessive disorder characterized by bone marrow failure, congenital abnormalities, chromosome instability, and increased susceptibility to neoplasia. Congenital abnormalities vary in location and in severity and not all patie...

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Published in:Pediatric hematology and oncology 1998, Vol.15 (1), p.45-54
Main Authors: Toraldo, R., Canino, G., Tolone, C., D'Avanzo, M., Porfirio, B., Hoehn, H., Schroeder-Kurth, T., Pistoia, V.
Format: Article
Language:English
Subjects:
Adrenal Cortex Hormones - therapeutic use
Androgens - therapeutic use
Anemias. Hemoglobinopathies
Biological and medical sciences
Blood Transfusion
Cell Cycle
Child
Chromosome Aberrations
Cross-Linking Reagents
diepoxybutane test (DEB test)
Diseases in Twins
Diseases of red blood cells
Epoxy Compounds
Erythropoietin - therapeutic use
Fanconi Anemia - diagnosis
Fanconi Anemia - genetics
Fanconi Anemia - therapy
Fanconi's anemia
flow cytometry
Flow Cytometry - methods
Hematologic and hematopoietic diseases
Humans
Lymphocytes - immunology
Lymphocytes - pathology
Male
Medical sciences
Prednisone - therapeutic use
Twins, Dizygotic
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Summary:Fanconi's anemia (FA) is a rare, genetically heterogeneous, autosomal recessive disorder characterized by bone marrow failure, congenital abnormalities, chromosome instability, and increased susceptibility to neoplasia. Congenital abnormalities vary in location and in severity and not all patients are affected. Although the primary deject of FA is unknown, hypersensitivity to the clastogenic effect of agents that introduce cross-links in the DNA, such as diepoxybutane (DEB), is a marker of the FA phenotype in patients suffering from aplastic anemia without the physical characteristics of the syndrome and, conversely, in cases with abnormalities in the preanemic phase. We report the case of two dizygotic twins suffering from FA with discordant hematologic data. The DEB test repeated several times in various laboratories yielded conflicting results, whereas cell cycle studies by flow cytometry revealed a pattern typical of FA patients. Moreover, the flow cytometric pattern was correlated with the clinical severity of the disease.
ISSN:0888-0018
1521-0669
DOI:10.3109/08880019809009507