What pharmacogenomic variants are known in HBB?

Key variants in HBB: rs334 (Glu6Val (Sickle cell)). These variants are associated with Sickle cell disease, Beta-thalassemia, Hemoglobin disorders.

Can PepFold design peptides targeting HBB?

Yes. PepFold accepts rsIDs associated with HBB, maps them to the protein structure, and generates peptide candidates. Anti-sickling peptides blocking HbS polymerization, fetal hemoglobin inducers, and peptide-drug conjugates targeting sickle cell adhesion molecules.

Gene Database

HBB — Hemoglobin Subunit Beta

Q: What is the HBB gene?

HBB (Hemoglobin Subunit Beta) is located on chromosome 11p15.4. Encodes beta-globin, which pairs with alpha-globin to form adult hemoglobin (HbA). Over 300 pathogenic variants known, including sickle cell (HbS) and beta-thalassemia mutations.

Chromosome 11p15.4

Encodes beta-globin, which pairs with alpha-globin to form adult hemoglobin (HbA). Over 300 pathogenic variants known, including sickle cell (HbS) and beta-thalassemia mutations.

Pharmacogenomic Variants

rs334Pathogenic

Glu6Val (Sickle cell) — Sickle cell disease

Peptide Therapeutic Approaches

Anti-sickling peptides blocking HbS polymerization, fetal hemoglobin inducers, and peptide-drug conjugates targeting sickle cell adhesion molecules.

Related Therapeutics

HydroxyureaVoxelotor (HbS polymerization inhibitor)Crizanlizumab

Associated Conditions

Sickle Cell Disease

A monogenic disorder caused by the HBB rs334 (Glu6Val) mutation in beta-globin. Hemoglobin S polymerizes under deoxygenation, causing vaso-occlusive crises, chronic hemolysis, and organ damage. Gene therapy and anti-sickling approaches are transforming treatment.

Analyze HBB variants with PepFold

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