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SPTA1

—Spectrin Alpha Erythrocytic 1

Chromosome: 1

Location: 1:158610704-158686715

OMIM: 182860

Ensembl: ENSG00000163554

Official·OMIM:182860 Official·ENSG00000163554

Encodes alpha-spectrin protein. Mutations cause hereditary elliptocytosis and spherocytosis.

Treatment Roadmap — SPTA1

Preclinical

Phase 1

Phase 2

Phase 3

Approved

Clinical trials have approximately 10% success rate. This roadmap shows the current status, not guaranteed outcomes.

Associated Diseases

Hereditary Spherocytosis

Autosomal RecessivePrevalence: 1/2000hematologic

Official·OMIM:182900 Official·ORPHA822

Summary

Clinical Trial

Approved Therapy

Registered Variant