Complex heterozygous mutations in hereditary spherocytosis: A case report.

BACKGROUND

The aim of this study was to investigate the complex heterozygous mutations of and in the same individual and improve our understanding of hereditary spherocytosis (HS) in children. We also hope to promote the application of gene detection technology in children with HS, with the goals of identifying more related gene mutations, supporting the acquisition of improved molecular genetic information to further reveal the pathogenesis of HS in children, and providing important guidance for the diagnosis, treatment, and prevention of HS in children.

CASE SUMMARY

A 1-year and 5-month-old patient presented jaundice during the neonatal period, mild anemia 8 months later, splenic enlargement at 1 year and 5 months, and brittle red blood cell permeability. Genetic testing was performed on the patient, their parents, and sister. Swiss Model software was used to predict the protein structure of complex heterozygous mutations in and . Genetic testing revealed that the patient harbored a new mutation in the gene from the father and a mutation in the gene from the mother. Combined with the clinical symptoms of the children, it is suggested that the newly discovered complex heterozygous mutations of and may be the cause, providing important guidance for revealing the pathogenesis, diagnosis, treatment, and promotion of gene detection technology in children with HS.

CONCLUSION

This case involves an unreported complex heterozygous mutation of and , which provides a reference for exploring HS.