HBA1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cytopenias and congenital anaemias

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Fetal hydrops

  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 (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

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

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Disease associations (Open Targets)

• hemoglobin H disease

  0.75

• Alpha-thalassemia

  0.75

• Autosomal dominant methemoglobinemia

  0.73

• alpha thalassemia spectrum

  0.71

• Heinz body anemia

  0.70

• primary familial polycythemia due to EPO receptor mutation

  0.69

• sickle cell disease

  0.57

• bacterial infectious disease

  0.46

• anemia (phenotype)

  0.38

• anemia

  0.37

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

Protein function (UniProt)