HBA1

hemoglobin subunit alpha 1
OMIM: 141800
PanelMode of inheritanceDetails
5 panels
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thalassemias, alpha-, OMIM:604131, Fatal hydrops fetalis, Hb Bart syndrome
R-numbers: R361
Signed-off version 1.9
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
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
R-numbers: R93
Signed-off version 1.9
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes