{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T11:49:42Z","timestamp":1790941782760,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2008,6,28]],"date-time":"2008-06-28T00:00:00Z","timestamp":1214611200000},"content-version":"vor","delay-in-days":4076,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[1997,5]]},"abstract":"<jats:p>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<jats:sup>+<\/jats:sup>) and non\u2010Fanconi anemia (non\u2010FA) (DEB<jats:sup>\u2010<\/jats:sup>) patients disclosed no statistically significant differences. The study indicated that in Turkey there were no peculiarities in associated congenital abnormalities in FA and non\u2010FA. The rate of consanguinity was 78% in FA and 46% in non\u2010FA, suggesting that also among the non\u2010FA group recessively inherited disorders are hidden. The mean age at diagnosis in FA was 7.7 \u00b1 4.4 (1.8\u201312) and in non\u2010FA 7.8 \u00b1 3.8 (2\u201315) years. Nine out of 52 FA and five out of 13 non\u2010FA patients died during the follow\u2010up period. Five of the 52 FA patients developed malignancies, three of them had acute myeloblasts 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\u2010FA patients. A total of seven patients stayed in remission without any medication. The remaining 58 patients were given 2\u20135 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\u2010FA 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\u2010FA patients there was increased risk for AML and\/or other cancers among family members.<\/jats:p>","DOI":"10.1111\/j.1399-0004.1997.tb02477.x","type":"journal-article","created":{"date-parts":[[2010,7,19]],"date-time":"2010-07-19T10:19:22Z","timestamp":1279534762000},"page":"296-302","source":"Crossref","is-referenced-by-count":20,"title":["Analysis of 65 Turkish patients with congenital aplastic anemia (Fanconi anemia and non\u2010Fanconi anemia): Hacettepe experience"],"prefix":"10.1111","volume":"51","author":[{"given":"\u00c7i\u01e7jdem","family":"Altay","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmet","family":"Alika\u015fifo\u01e7lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdurrahman","family":"Kara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erg\u00fcl","family":"Tun\u00e7bilek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Namik","family":"\u00d6zbek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trautte M.","family":"Schroeder\u2010Kurth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,6,28]]},"reference":[{"key":"e_1_2_1_1_1","first-page":"77","article-title":"Unusual manifestations in congenita! aplastic anemia","volume":"6","author":"Albayrak D","year":"1992","journal-title":"\u00c7ocuk Sag Has"},{"key":"e_1_2_1_2_1","first-page":"219","article-title":"Distribution of hemoglobinopathies in Turkey","volume":"28","author":"Altay \u00c7","year":"1986","journal-title":"Turkish J Pediatr"},{"key":"e_1_2_1_3_1","first-page":"216","volume-title":"Hematology of infancy and childhood","author":"Alter BP","year":"1993"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1993.tb08638.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1994.02170060115027"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V73.2.391.391"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(91)90002-C"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000208641"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1947.02020410022003"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.91.6.1116"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000207225"},{"key":"e_1_2_1_12_1","volume-title":"The hemoglobinopathies: technique of identification","author":"Huisman THJ","year":"1977"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01481043"},{"key":"e_1_2_1_14_1","first-page":"1829","article-title":"A high susceptibility of Fanconi's anemia to chromosome breakage by DNA cross\u2010linking agents","volume":"33","author":"Sasaki MS","year":"1973","journal-title":"Cancer Res"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00389636"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.117.7.443"},{"key":"e_1_2_1_17_1","first-page":"106","article-title":"\u03b2\u2010globin haplotype and XmnI polymorphism at position G\u03b3\u2010158 and HbF production in Fanconi's anemia","volume":"77","author":"Rosatelli MC","year":"1992","journal-title":"Haematologica"},{"key":"e_1_2_1_18_1","first-page":"595","article-title":"Mutation analysis of the Fanconi anemia gene FACC","volume":"54","author":"Verlander PC","year":"1994","journal-title":"Am J Hum Genet"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.1997.tb02477.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.1997.tb02477.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T09:39:19Z","timestamp":1698485959000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.1997.tb02477.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,5]]},"references-count":18,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1997,5]]}},"alternative-id":["10.1111\/j.1399-0004.1997.tb02477.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.1997.tb02477.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,5]]}}}