Patients with symptoms of haemolytic anaemia and thrombocytopenia revealed by genetic testing as sitosterolemia

Abstract Background Sitosterolemia is a rare, inherited, autosomal recessive disorder of lipid metabolism. Patients with sitosterolemia may exhibit diverse, distinct clinical characteristics. Methods and results We report cases of sitosterolemia with haematological abnormalities as primary initial s...

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Bibliographic Details

Published in:	Clinical and Translational Discovery
Main Authors:	Mengjia Qian, Pu Chen, Yanxia Zhan, Bijun Zhu, Lingyan Wang, Miaomiao Zhang, Yujie Zhou, Hao Chen, Lili Ji, Yunfeng Cheng
Format:	Article
Language:	English
Published:	Wiley 2025-08-01
Subjects:	ABCG5 haematological abnormalities ITGB3 sitosterolemia
Online Access:	https://doi.org/10.1002/ctd2.70071