Genomics England

Sickle cell, thalassaemia and other haemoglobinopathies (Version: )

Relevant disorders: Sickle cell, thalassaemia and other haemoglobinopathies, R93, Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing, R361, GT713, TP199, TP473

Signed off date: 12 Aug 2026

Panel types: GMS Rare Disease, GMS signed-off

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5 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	HBA1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	HBA2	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	HBB	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HBG1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HBG2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A

Sickle cell, thalassaemia and other haemoglobinopathies (Version: 2.112.22.01.0)

Sickle cell, thalassaemia and other haemoglobinopathies (Version: )