What genetic variants are associated with Sickle Cell Disease?

Key pharmacogenomic variants: rs334 in HBB. Genes involved: HBB, BCL11A, HBG1.

How can PepFold help with Sickle Cell Disease research?

PepFold accepts the rsIDs associated with Sickle Cell Disease (rs334) and generates computational peptide candidates targeting the affected proteins. Each candidate comes with predicted 3D structures, 10-dimension scoring, and Fmoc-SPPS synthesis protocols.

Condition Database

Sickle Cell Disease

Prevalence: ~300,000 births/year worldwide, predominantly in Sub-Saharan Africa, Mediterranean, Middle East, India

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.

Peptide Therapeutics

Anti-sickling peptides blocking HbS polymerization contacts, fetal hemoglobin-inducing peptides, anti-adhesion peptides preventing vaso-occlusion, and cell-penetrating peptide delivery of gene editing machinery.

Current Treatments

Hydroxyurea, voxelotor, crizanlizumab, L-glutamine, gene therapy (Casgevy, Lyfgenia). Blood transfusions for acute crises.

Key Genetic Variants

rs334~8% African Americans (carriers)

HBB — Glu6Val (Sickle cell)

Associated Genes

HBBHemoglobin Subunit Beta

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.

BCL11AProfile coming soon

HBG1Profile coming soon

Explore peptide candidates for Sickle Cell Disease

Submit rs334 to PepFold. Full report with 3D structures and synthesis protocols in under 2 minutes.

Try Analysis View Pricing