Case Report: A Novel ANK1 Gene Mutation in a Chinese Patient with Hereditary Spherocytosis

A Chinese clinical case report details the genetic diagnosis of an 8-year-old girl with hereditary spherocytosis. The report, authored by Mingqian Lai and published on figshare in 2026, identifies a novel heterozygous pathogenic mutation (c.2388 +2T > A) in the ANK1 gene. The study provides insight into the genetic basis of this condition within the Chinese population.

Use Cases

• Validate novel genetic variants in hereditary spherocytosis based on the described clinical presentation and laboratory findings.
• Study genotype-phenotype correlations for ANK1 mutations based on the detailed case description.
• Benchmark genetic diagnostic pipelines for rare blood disorders based on the whole-exome sequencing methodology described.

Strengths

• The dataset is a detailed clinical case report with specific genetic findings, including a novel ANK1 mutation (c.2388 +2T > A).
• It includes specific clinical and laboratory data points, such as patient age, symptoms, and results from osmotic fragility tests and electron microscopy.
• The data is openly available under a CC-BY-4.0 license.

Limitations

• The dataset is a single case report (882.3 KB PDF), representing a very limited sample size of one patient.
• Row count and column-level documentation are absent; the data is embedded in narrative text.
• Description metadata is limited; actual data quality requires manual inspection after download.

Provenance

Source

figshare

Collection Method

Clinical case study and whole-exome sequencing.

Freshness

Last updated 2026-05-29 06:11:39; freshness should be verified.

Geography

China