HBB rs193922552: what the research says
This variant is a missense mutation associated with beta-thalassemia, a condition affecting hemoglobin production.
What each genotype means
Typical hemoglobin production
This genotype represents the most common genetic sequence found in the HBB gene. It is not associated with the beta-thalassemia conditions linked to this specific variant.
This is the most common genotype observed across all global populations.
Beta-thalassemia carrier status
This genotype indicates you carry one copy of the variant, which is associated with beta-thalassemia. As this is a recessive condition, carriers typically do not exhibit symptoms, though they may have mild hematological findings; please discuss these results with a clinician or genetic counselor.
This genotype is rare in the general population, with specific frequencies varying significantly by ancestry.
Potential beta-thalassemia risk
This genotype indicates you carry two copies of the variant associated with beta-thalassemia. This may impact hemoglobin production and is linked to clinical presentations of the condition; please consult with a healthcare provider or hematologist for clinical evaluation.
This genotype is extremely rare in the general population.
Rare
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A variant in the HBB gene often overlooked in standard panels but linked to beta-thalassemia carrier status in specific populations.
This variant is associated with hemoglobin-related traits and is frequently referenced in clinical databases.
This variant is a known pathogenic mutation in the HBB gene linked to beta-thalassemia.
This variant is a pathogenic mutation in the HBB gene associated with hemoglobinopathies such as sickle cell disease.
This variant is linked to sickle cell trait and related hemoglobin disorders, requiring clinical validation for carrier status.
This variant is associated with hemoglobinopathies and is a well-established clinical marker often absent from basic consumer panels.