HBB

hemoglobin subunit beta
OMIM: 141900
PanelMode of inheritanceDetails
2 panels
R-numbers: R405
Signed-off version 1.19
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial erythrocytosis
Green
in Rare anaemia
R-numbers: R92
Signed-off version 1.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
603902 Dominand inclusion body beta thalassaemia, Erythremias, beta-, Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700, Globin Disorder, 141749 Delta-beta thalassaemia, 613985 Beta thalassaemia, Methemoglobinemias, beta-, Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985, 603903 Sickle cell disease, 603902 Thalassemia-beta, dominant inclusion-body, Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903, Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749, Thalassemia-beta, dominant inclusion-body, 603902, Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749, 613985 Thalassemia, beta