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

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 Kaymak^4
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

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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 Kaymak^4
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

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