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Rare DiseaseEvidence 1APhysician review
rs334 · HBB
Risk allele: T
Risk-Allele Phenotype
Sickle cell disease (Glu6Val), severe hemolysis, vaso-occlusive crises, organ damage, and shortened lifespan
Reference-Allele Phenotype
Normal hemoglobin S production and RBC shape
Evidence Level
1A — Strong — multiple high-quality studies See methodology for how we grade evidence.
Cross-References
Informational only
This page summarizes population-level evidence about a genetic variant. It is not a diagnosis. Your individual risk depends on your full genome, lifestyle, environment, and family history. Consult a healthcare provider for personalized medical advice.
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