title: Analysis of 65 Turkish patients with congenital aplastic anemia (Fanconi anemia and non-Fanconi anemia): Hacettepe experience.
abstract: 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.
authors.affiliation: Department of Pediatrics, Pediatric Hematology Unit, Ihsan Dogramaci Children's Hospital, Hacettepe University, Ankara, Turkey.
authors.forename: C
authors.initials: C
authors.lastname: Altay
authors.forename: M
authors.initials: M
authors.lastname: Alikaşifoglu
authors.forename: A
authors.initials: A
authors.lastname: Kara
authors.forename: E
authors.initials: E
authors.lastname: Tunçbilek
authors.forename: N
authors.initials: N
authors.lastname: Ozbek
authors.forename: T M
authors.initials: TM
authors.lastname: Schroeder-Kurth
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D000741:Anemia, Aplastic / Q000151:congenital* / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D018450:Disease Progression; D004852:Epoxy Compounds / Q000032:analysis; D005199:Fanconi Anemia / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D010110:Oxymetholone / Q000627:therapeutic use; D010375:Pedigree; D014421:Turkey
chemical_list: D004852:Epoxy Compounds; C007366:diepoxybutane; D010110:Oxymetholone