Turk J Hematol. Ahead of Print: TJH-20846 | DOI: 10.4274/tjh.galenos.2025.2025.0093

Sitosterolemia with Compound Heterozygous Variants in the ABCG5 Gene: A Rare Cause of Non-immune Hemolysis and Macrothrombocytopenia

Başak Bostankolu Değirmenci¹, Hamza Polat^2
1Ankara Atatürk Sanatoryum Training and Research Hospital, Clinic of Hematology, Ankara, Türkiye
²Gazi Yaşargil Training and Research Hospital, Clinic of Medical Genetics, Diyarbakır, Türkiye

Keywords: Sitosterolemia, hemolysis, ABCG5, macrothrombocytopenia

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ABCG5 Geninde Bileşik Heterozigot Varyantlar ile Sitosterolemi: İmmün Olmayan Hemoliz ve Makrotrombositopeninin Nadir Bir Nedeni

Başak Bostankolu Değirmenci¹, Hamza Polat^2
1Ankara Atatürk Sanatoryum Training and Research Hospital, Clinic of Hematology, Ankara, Türkiye
²Gazi Yaşargil Training and Research Hospital, Clinic of Medical Genetics, Diyarbakır, Türkiye

Anahtar Kelimeler: Sitosterolemi, hemoliz, ABCG5, makrotrombositopeni

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