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Molecular Diagnosis and Stability Testing of Hemoglobin Phnom Penh [HBA1: C.353_355dup (p.Phe118_Thr119insIle)] - The First Northern Thai Case.

Hemoglobin - 1 Sept 2025

Wongkuna Phurachan, Boontha Siriraj, Khamphikham Pinyaphat

Abstract excerpt

Hemoglobin (Hb) Phnom Penh is a rare Hb variant of non-clinical significance caused by a duplication of TCA within exon 3 of the human HBA1 gene, resulting in the insertion of isoleucine [c.353_355dup (p.Phe118_Thr119insIle)]. This variant can interfere with glycated Hb analysis and has been identified in several Asian populations, including Cambodian, Chinese, northeastern Thai, and Taiwanese individuals. In...

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Identifiers

PMID: 40887457
DOI: 10.1080/03630269.2025.2553039

Genes

HBA1

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