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Article

A novel G6PD gene variant in a Chinese girl with favism.

Journal of clinical laboratory analysis - 1 Sept 2020

Shen Shanshan, Xiong Qian, Cai Wenqian, Xiong Hao, Hu Xijiang

Abstract excerpt

BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. The human G6PD gene is highly polymorphic, and over 200 mutations have been identified, many of which are associated with hemolytic anemia. Here, we analyzed the clinical genetics data of a Chinese girl with favism who developed acute hemolytic anemia after fava bean ingestion. METHODS: The clinical genetics data...

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Identifiers

PMID: 32557798
DOI: 10.1002/jcla.23402
PMCID: PMC7521235

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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