. 2023; 40(4): 288-290 | DOI: 10.4274/tjh.galenos.2023.2023.0270  

Yüksek Ferritin Düzeyi ve Mikrositik Anemi ile Prezente Olan, Yeni Bir Patojenik Varyanta Sahip Olduğu Tespit Edilen Türk Aseruloplazminemi Olgusu

Hande Özkalaycı1, Meral Uluköylü Mengüç2, Naz Güleray Lafcı3, Ayşegül Öztürk Kaymak4
1Bolu 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


A Turkish Patient with Aceruloplasminemia Found to Have a Novel Pathogenic Variant Presenting with High Ferritin Level and Microcytic Anemia

Hande Özkalaycı1, Meral Uluköylü Mengüç2, Naz Güleray Lafcı3, Ayşegül Öztürk Kaymak4
1Bolu 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


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. . 2023; 40(4): 288-290

Sorumlu Yazar: Hande Özkalaycı, Türkiye


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