Case Report: Low HbA1c in a Diabetic Patient with SLC4A1 Mutation

A clinical case report details a 56-year-old type 2 diabetic patient with an SLC4A1 gene mutation, presenting high blood glucose and low hemoglobin A1c (HbA1c) levels. The dataset includes patient evaluation data and estimates a 0.756% carrier frequency for pathogenic SLC4A1 variants in the Chinese population. The data was authored by Lili Ye and last updated on April 14, 2026.

Use Cases

• Study the correlation between SLC4A1 mutations and HbA1c measurement accuracy based on the clinical case description.
• Analyze the prevalence of SLC4A1 variants in a population based on the estimated 0.756% carrier frequency in China.
• Investigate nonglycemic mechanisms affecting HbA1c, such as reduced erythrocyte lifespan, as described in the conclusions.

Strengths

• Data is licensed under CC-BY-4.0, allowing for open sharing and reuse.
• The description provides specific clinical findings, including patient age (56), mutation details (c.1239_1241del), and a population carrier frequency estimate (0.756%).

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 small (134.6 KB), indicating a limited scope focused on a single case report.

Provenance

Source

figshare

Collection Method

Clinical case evaluation and exome sequencing, as described in the methods.

Freshness

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

Geography

China (for population frequency estimate)