A Turkish Patient with Aceruloplasminemia Found to Have a Novel Pathogenic Variant Presenting with High Ferritin Level and Microcytic AnemiaHande Özkalaycı1, Meral Uluköylü Mengüç2, Naz Güleray Lafcı3, Ayşegül Öztürk Kaymak41Bolu Abant İzzet Baysal Training and Research Hospital, Department of Medical Genetics, Bolu, Türkiye
2Bolu Abant İzzet Baysal Training and Research Hospital, Department of Hematology, Bolu, Türkiye
3Hacettepe University Faculty of Medicine, Department of Medical Genetics, Ankara, Türkiye
4Düzen Laboratory, Department of Medical Genetics, Ankara, Türkiye
Keywords: Hyperferritinemia, Ceruloplasmin, Mutation, Anemia
Yüksek Ferritin Düzeyi ve Mikrositik Anemi ile Prezente Olan, Yeni Bir Patojenik Varyanta Sahip Olduğu Tespit Edilen Türk Aseruloplazminemi OlgusuHande Özkalaycı1, Meral Uluköylü Mengüç2, Naz Güleray Lafcı3, Ayşegül Öztürk Kaymak41Bolu Abant İzzet Baysal Training and Research Hospital, Department of Medical Genetics, Bolu, Türkiye
2Bolu Abant İzzet Baysal Training and Research Hospital, Department of Hematology, Bolu, Türkiye
3Hacettepe University Faculty of Medicine, Department of Medical Genetics, Ankara, Türkiye
4Düzen Laboratory, Department of Medical Genetics, Ankara, Türkiye
Anahtar Kelimeler: Hiperferritinemi, Seruloplazmin, Mutasyon, Anemi
Hande Özkalaycı, Meral Uluköylü Mengüç, Naz Güleray Lafcı, Ayşegül Öztürk Kaymak. A Turkish Patient with Aceruloplasminemia Found to Have a Novel Pathogenic Variant Presenting with High Ferritin Level and Microcytic Anemia. Turk J Hematol. 2023; 40(4): 288-290
Corresponding Author: Hande Özkalaycı, Türkiye |
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