Genomics England
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Thalassaemia and other haemoglobinopathies (Version: )

Relevant disorders: R93
Signed off date: 14 Sept 2023
Panel types: GMS Rare Disease, GMS signed-off
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2 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
HBA1
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
HBB
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A