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Hb Phnom Penh: clinical characteristics analysis and literature review.

Hematology (Amsterdam, Netherlands) - 1 Dec 2024

Liang Jian-Lian, Ge Yi-Yuan, Situ Jing-Wei, Yao Jin-Xiu, Chen Jin-Ling, Xie Long-Xu, Yang Li-Ye

Abstract excerpt

OBJECTIVE: To summarize and analyze the clinical characteristics of the Hb Phnom Penh (HBA1:c.354_355insATC) variant in the Chinese population, and to guide clinical diagnosis and genetic counseling for hemoglobin disorders. METHODS: Peripheral blood samples were collected from patients, and hematological parameters, hemoglobin electrophoresis, and glycated hemoglobin chromatography were analyzed. PCR combined...

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PMID: 39545591
DOI: 10.1080/16078454.2024.2427920

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