Clin Genet. 1997 May;51(5):296-302.
Analysis of 65 Turkish patients with congenital aplastic anemia (Fanconi anemia
and non-Fanconi anemia): Hacettepe experience.
Altay C, Alikaşifoglu M, Kara A, Tunçbilek E, Ozbek N, Schroeder-Kurth TM.
Department of Pediatrics, Pediatric Hematology Unit, Ihsan Dogramaci Children's
Hospital, Hacettepe University, Ankara, Turkey.
During the last 14 years, 65 unrelated patients were diagnosed as having
constitutional aplastic anemia (CAA). In 52 of 65 patients the diepoxybutane
(DEB) test was positive. Comparison of several hematological and clinical
parameters in Fanconi anemia (FA) (DEB+) and non-Fanconi anemia (non-FA)(DEB )
patients disclosed no statistically significant differences. The study indicated
that in Turkey there were no peculiarities in associated congenital abnormalities
in FA and non-FA. The rate of consanguinity was 78% in FA and 46% in non-FA,
suggesting that also among the non-FA group recessively inherited disorders are
hidden. The mean age at diagnosis in FA was 7.7+/-4.4 (1.8-12) and in non-FA
7.8+/-3.8 (2-15) years. Nine out of 52 FA and five out of 13 non-FA patients died
during the follow-up period. Five of the 52 FA patients developed malignancies,
three of them had acute myeloblastic leukemia (AML), one a squamous cell
carcinoma of the gingiva, and another a hepatocellular carcinoma. Peliosis
hepatica occurred in three of the FA and one of the non-FA patients. A total of
seven patients stayed in remission without any medication. The remaining 58
patients were given 2-5 mg/kg of oxymetholone and 5 mg prednisolone treatment.
Because of sustained remission, oxymetholone therapy was terminated in four of
the 45 FA and two of the 13 non-FA patients. Detailed examination of the
pedigrees of all of patients indicated the presence of multiple congenital
anomalies. In seven of 52 FA and one of 13 non-FA patients there was increased
risk for AML and/or other cancers among family members.
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