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DIAGNOSIS OF FANCONI ANEMIA
N. G. Papadopoulos, MD, E. Papadaki, MD, S. Kitsiou-Tzeli, MD, Th. Farmakakis,MD, and A. Fretzayas, MD h 2nd Department of Pediatrics, Universityof Athens, Goudi, Greece
It is certainly dif® cult to achieve a functional de ® nition of a syndromewhile its basic mechanisms are still obscure. From the clinical point of view,our case [1] together with a small number of similar ones would have beendiagnosed as Fanconi anemia, if the clastogenic stress test has not been de-® ned as an essential criterion [2]. On the other hand, cases with a positiveclastogenic stress test not combined with a typical clinical presentation mustalso be considered [3].
A wider de® nition, as suggested by Prof. ÈOzsoylu, may well prove bene-® cial to the management of these patients. Subgroups within the ªFanconiºrange, in terms of both genetic background and prognostic value, couldprobably be de® ned in the future.
REFERENCES
1. Papadopoulos NG, Papadaki E, Kitsiou-Tzeli S, Farmakakis Th, Fretzayas A. A case of non-Fanconi
anem ia bone marrow dysfunction with fam ilial involvement. Pediatr Hematol Oncol. 1998;15:277± 281.
2. Auerbach AD, Rogatko A, Schroeder-Kurth TM. International Fanconi Anem ia Registry: relation of
clinical symptoms to diepoxybutane sensitivity. Blood. 1989;73:391± 396.
3. Alter BP. Fanconi’s anemia and its variability. Br J Hematol. 1993;85:9 ± 14.
Received 21 September 1998; accepted 21 September 1998.
Address correspondence to Professor A. Fretzayas, 2nd Department of Pediatrics, University of
Athens, ªP & A Kyriakouº Children’s H ospital, Thevon & Levadias 11527, Goudi, Greece .
Pediatric Hem atology and Oncology, 16:273, 1999
Copyright C° 1999 Taylor & Francis
0888-0018/99 $12.00 + .00 273
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