Sitosterolemia with Compound Heterozygous Variants in the <em>ABCG5</em> Gene: A Rare Cause of Non-Immune Hemolysis and Macrothrombocytopenia

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Turkish Journal of Hematology

Sitosterolemia with Compound Heterozygous Variants in the <em>ABCG5</em> Gene: A Rare Cause of Non-Immune Hemolysis and Macrothrombocytopenia [Turk J Hematol]

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 Polat²
¹University of Health Sciences Türkiye, Atatürk Sanatoryum Training and Research Hospital, Clinic of Hematology, Ankara, Türkiye
²University of Health Sciences Türkiye, Gazi Yaşargil Training and Research Hospital, Clinic of Medical Genetics, Diyarbakır, Türkiye

Keywords: Sitosterolemia, Hemolysis, ABCG5, Macrothrombocytopenia

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

Başak Bostankolu Değirmenci¹, Hamza Polat²
¹University of Health Sciences Türkiye, Atatürk Sanatoryum Training and Research Hospital, Clinic of Hematology, Ankara, Türkiye
²University of Health Sciences Türkiye, Gazi Yaşargil Training and Research Hospital, Clinic of Medical Genetics, Diyarbakır, Türkiye

Anahtar Kelimeler: Sitosterolemi, Hemoliz, ABCG5, Makrotrombositopeni

Corresponding Author: Başak Bostankolu Değirmenci

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