ArticleIndian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion2021
Sitosterolemia: Four Cases of an Uncommon Cause of Hemolytic Anemia (Mediterranean Stomatocytosis with Macrothrombocytopenia).
Article in Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed, 3 citations in OpenAlex.
- Sitosterolemia presenting as unexplained cytopenias: hematologic manifestations and genetic spectrum.Blood research · 2026Article
- A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.Journal of atherosclerosis and thrombosis · 2026Article
- Molecular genetic basis and clinical heterogeneity of sitosterolemia: focusing on the mutation spectrum and pathogenic mechanisms of ABCG5/ABCG8 genes.Frontiers in nutrition · 2026Review
- NovelHuman mutation · 2026Article
- Clinical, genetic characteristics and long-term follow-up of sitosterolemia in children.Translational pediatrics · 2025Article
- Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure: A Multi-Center Prospective Cohort Study.Frontiers in immunology · 2022Article
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9 authors at 1 institution in 1 country.
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Abstract
Sitosterolemia is a rare autosomal recessively inherited lipid metabolic disorder that is characterized by hyper absorption of plant sterols from the intestinal mucosa leading to toxic levels in the blood. Four patients of age ranging from 11 to 29 years presented to the outpatient department with clinical features of hemolytic anemia. There were no features of hypercholesterolemia in any of the patients. Peripheral smear examination of all four patients showed stomatocytes and macrothrombocytopenia. Qualitative testing for plant sterols was performed in one case. Next generation sequencing revealed a compound heterozygous mutation in
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