Genomics England
GMS Panels
Panels
Genes and Entities

HBA1

hemoglobin subunit alpha 1
OMIM: 141800
PanelMode of inheritanceDetails
4 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thalassemias, alpha-, OMIM:604131, Fatal hydrops fetalis, Hb Bart syndrome
Green
in Hereditary Erythrocytosis
R-numbers: R405
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Erythrocytosis 7, OMIM:617981
Green
in Rare anaemia
R-numbers: R92
Signed-off version 4.7
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 Sickle cell, thalassaemia and other haemoglobinopathies
R-numbers: R93, R361
Signed-off version 2.11
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Heinz body anemias, alpha-, OMIM:140700, Thalassemias, alpha-, OMIM:604131, Hemoglobin H disease, nondeletional, OMIM:613978, Methemoglobinemia, alpha type, OMIM:617973, Erythrocytosis, familial, 7, OMIM:617981, HBA1-related alpha thalassemia spectrum, MONDO:0100561, methemoglobinemia, alpha type, MONDO:0020835