ArticleFrontiers in oncology2025
Novel compound heterozygous
Article in Frontiers in oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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1 citing paper in PubMed.
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8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: Dehydrated hereditary stomatocytosis (DHS) is a rare autosomal dominant congenital non-immune hemolytic anemia caused by pathogenic variants in the Case presentation: A 22-year-old man presented with a 7-year history of anemia initially misdiagnosed as myelodysplastic syndrome (MDS) due to hypercellular bone marrow findings and MDS-like features. Over time, his condition progressed to include cerebral venous sinus thrombosis (CVST), a severe complication. Comprehensive genetic testing at our hospital using whole-exome sequencing (WES) revealed novel compound heterozygous Conclusion: This case underscores the importance of considering DHS in patients with unexplained anemia and MDS-like features, particularly when associated with thrombotic complications. It highlights the critical role of genetic testing in diagnosing rare hereditary anemias and demonstrates that allo-HSCT can be a curative treatment in selected cases.
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