Genomics England

hemoglobin subunit alpha 1

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Thalassemias, alpha-, OMIM:604131, Fatal hydrops fetalis, Hb Bart syndrome
Green in Haemoglobinopathy trait or carrier testing R-numbers: R361 Signed-off version 1.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes
Green in Hereditary Erythrocytosis R-numbers: R405 Signed-off version 2.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Erythrocytosis 7, OMIM:617981
Green in Rare anaemia R-numbers: R92 Signed-off version 3.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Erythrocytosis 7, OMIM:617981, Heinz body anemias, alpha-, OMIM:140700, Hemoglobin H disease, nondeletional, OMIM:613978, Methemoglobinemia, alpha type, OMIM:617973, Thalassemias, alpha-, OMIM:604131
Green in Thalassaemia and other haemoglobinopathies R-numbers: R93 Signed-off version 1.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes