HBB

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cytopenias and congenital anaemias

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Hereditary Erythrocytosis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Rare anaemia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Sickle cell, thalassaemia and other haemoglobinopathies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Cerebral vascular malformations

  BIALLELIC, autosomal or pseudoautosomal

• COVID-19 research

Disease associations (Open Targets)

• Beta-thalassemia

  0.79

• sickle cell disease

  0.79

• dominant beta-thalassemia

  0.79

• beta thalassemia

  0.78

• hemoglobin M disease

  0.77

• beta-thalassemia HBB/LCRB

  0.76

• Hereditary persistence of fetal hemoglobin - beta-thalassemia

  0.76

• erythrocytosis, familial, 6

  0.75

• Autosomal dominant methemoglobinemia

  0.75

• anemia

  0.73

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

Protein function (UniProt)