HBG1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Rare anaemia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Sickle cell, thalassaemia and other haemoglobinopathies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Cytopenias and congenital anaemias

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• Hereditary persistence of fetal hemoglobin - beta-thalassemia

  0.67

• hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

  0.60

• hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

  0.40

• delta-beta-thalassemia

  0.37

• hemoglobin E disease

  0.11

• atrial fibrillation

  0.07

• autosomal dominant cerebellar ataxia

  0.04

• cancer

  0.04

• familial hemolytic anemia

  0.03

• inherited hemoglobinopathy

  0.03

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

Protein function (UniProt)