HBD

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Rare anaemia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Cytopenias and congenital anaemias

  Unknown

Disease associations (Open Targets)

• delta-beta-thalassemia

  0.68

• Hereditary persistence of fetal hemoglobin - beta-thalassemia

  0.39

• anemia

  0.35

• beta-thalassemia HBB/LCRB

  0.34

• Alpha-thalassemia

  0.34

• Reduced beta/alpha synthesis ratio

  0.34

• Abnormal hemoglobin

  0.34

• alpha thalassemia spectrum

  0.34

• Persistence of hemoglobin F

  0.34

• glucocorticoid-remediable aldosteronism

  0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)