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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...

Topics

Humans
Male
Glycated Hemoglobin
Hemoglobins, Abnormal
Heterozygote
Mutation
Protein Stability
Southeast Asian People
Thailand

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 40887457
DOI: 10.1080/03630269.2025.2553039

Genes

HBA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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