Case Report: Diabetic Patient with SLC4A1 Mutation and Low HbA1c

A clinical case report from figshare details a 56-year-old type 2 diabetic patient with an SLC4A1 gene mutation, presenting high blood glucose but low HbA1c. The report includes clinical evaluation data and estimates a 0.756% carrier frequency for pathogenic SLC4A1 variants in the Chinese population. It was authored by Lili Ye and last updated on April 14, 2026.

Use Cases

• Study the correlation between SLC4A1 mutations and HbA1c levels based on the detailed patient case.
• Analyze the impact of non-glycemic factors on diabetes diagnosis based on the described clinical markers like glycated albumin and red blood cell fragility.
• Investigate the population genetics of SLC4A1 variants based on the estimated carrier frequency in China.
• Train models to identify potential genetic causes for discordant glucose and HbA1c readings based on the case features.

Strengths

• Includes a specific carrier frequency estimate (0.756%) for SLC4A1 variants in China.
• Provides detailed clinical markers for a specific patient case, including HbA1c, glycated albumin, and genetic sequencing results.
• Dataset is openly licensed under CC-BY-4.0.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• The dataset is very small (134.6 KB), indicating a limited scope focused on a single case report and summary statistics.

Provenance

Source

figshare, author Lili Ye.

Collection Method

Likely contains clinical case data and population genetics analysis derived from exome sequencing and clinical evaluation.

Freshness

Last updated 2026-04-14 04:21:20; freshness should be verified.

Geography

China (patient case and population frequency estimate).