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Molecular characterization of similar Hb Lepore Boston-Washington in four Chinese families using third generation sequencing

30 Apr 2024

Abstract excerpt

Hemoglobin (Hb) Lepore is a rare deletional δβ-thalassemia caused by the fusion between delta-beta genes, and cannot be identified by traditional thaltassemia gene testing technology. The aim of this study was to conduct molecular diagnosis and clinical analysis of Hb Lepore in four unrelated Chinese families using third generation sequencing. Decreased levels of mean corpuscular volume (MCV), mean corpuscular...

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PMID: 38693200
DOI: 10.1038/s41598-024-60604-7

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