ANALYSIS OF 65 TURKISH PATIENTS WITH CONGENITAL APLASTIC-ANEMIA (FANCONI-ANEMIA AND NON-FANCONI-ANEMIA) - HACETTEPE EXPERIENCE

During the last 14 years, 65 unrelated patients were diagnosed as havi ng constitutional aplastic anemia (CAA). In 52 of 65 patients the diep oxybutane (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 peculia rities in associated congenital abnormalities in FA and non-FA. The ra te of consanguinity was 78% in FA and 46% in non-FA, suggesting that a lso 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-F A 7.8 +/- 3.8 (2-15) years, Nine out of 52 FA and five out of 13 non-F A patients died during the follow-up period, Five of the 52 FA patient s developed malignancies, three of them had acute myeloblastic leukemi a (AML), one a squamous cell carcinoma of the gingiva, and another a h epatocellular carcinoma. Peliosis hepatica occurred in three of the FA and one of the non-FA patients. A total of seven patients stayed in r emission 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 th e 45 FA and two of the 13 non-FA patients. Detailed examination of the pedigrees of all of patients indicated the presence of multiple conge nital 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.