AI Article Synopsis
- G6PD deficiency is a common enzymopathy linked to various mutations, often resulting in hemolytic anemia, with this study focusing on a Chinese girl who experienced acute hemolytic anemia after eating fava beans.
- The research involved analyzing clinical data and sequencing the G6PD gene in the girl and her family, leading to the identification of a novel variant called "G6PD Wuhan" with a specific mutation (141G > C).
- This novel variant was found to potentially impair G6PD enzyme activity, suggesting that it is responsible for the girl's reaction to fava beans and highlighting the importance of genetic counseling regarding G6PD mutations.
Article Abstract
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 of the proband who developed acute hemolytic anemia were collected and analyzed, and G6PD gene exons were sequenced in the proband and her family.
Results: We reported for the first time a novel G6PD gene variant in a Chinese girl, which we named "G6PD Wuhan." This variant is localized exon 3 of the G6PD gene at genomic position 141G > C, that is a change from p.Lys47 to Asn. The bioinformatics analysis and protein modeling study indicated this variant may have negative effects on the enzyme activity of G6PD.
Conclusions: Our results indicated that favism in the proband was caused by this novel heterozygous variant (c.141G > C) in G6PD. The variant in G6PD has implications for genetic counseling and could provide insights into the functional roles of G6PD mutations.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7521235 | PMC |
| http://dx.doi.org/10.1002/jcla.23402 | DOI Listing |
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