Complex heterozygous mutations in hereditary spherocytosis: A case report

Area of Science:

• Genetics
• Pediatrics
• Hematology

Background:

• Investigates complex heterozygous mutations in ANK1 and SPTA1 genes.
• Aims to improve understanding of hereditary spherocytosis (HS) in children.
• Promotes gene detection technology for HS diagnosis and management.

Observation:

• A 1-year-5-month-old patient presented with neonatal jaundice, anemia, and splenomegaly.
• Red blood cells showed brittle permeability.
• Genetic testing included the patient, parents, and sister.

Findings:

• Identified a novel ANK1 gene mutation inherited from the father.
• Identified an SPTA1 gene mutation inherited from the mother.
• The combination of these complex heterozygous mutations is suggested as the cause of HS.

Implications:

• Provides a reference for exploring HS.
• Offers guidance for revealing HS pathogenesis.
• Supports the diagnosis, treatment, and prevention of HS in children through genetic insights.