ArticleJournal of clinical laboratory analysis2026
Phenotypic and Genotypic Analysis of Two Rare Cases of --
Article in Journal of clinical laboratory analysis, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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8 authors.
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Abstract
backgroundTo report two cases of hemoglobin H (HbH) disease with routine genetic testing missed rare variants, where the phenotype was inconsistent with routine genetic testing results, explore their true genotypes and clinical characteristics, and evaluate the application value of single-molecule nanopore sequencing (CycloneSEQ platform) in detecting rare thalassemia variants.
methodsCommon thalassemia gene testing was performed on two adult male patients who presented with different complications. The results showed --
resultsThe two patients were ultimately diagnosed with rare deletional HbH disease with the genotype --
conclusionConventional thalassemia testing fails to identify rare deletional HbH disease, frequently causing genotype-phenotype discordance and diagnostic bias. The newly reported --
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