Hereditary Erythrocytosis
Gene: HBA1

HBA1 (hemoglobin subunit alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000206172
EnsemblGeneIds (GRCh37): ENSG00000206172
OMIM: 141800, Gene2Phenotype
HBA1 is in 7 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: This gene is also associated with Heinz body anemias, alpha-, OMIM:140700; Hemoglobin H disease, nondeletional, OMIM:613978; Methemoglobinemia, alpha type, OMIM:617973; Thalassemias, alpha-, OMIM:604131
Created: 23 Mar 2021, 10:10 a.m. | Last Modified: 23 Mar 2021, 10:10 a.m.

Panel Version: 1.27

Created: 23 Mar 2021, 10:10 a.m.
Last Modified: 23 Mar 2021, 10:10 a.m.
Panel version: 1.27

Olivia Niblock (Genomics England Curator)

Comment on list classification: There are some HBB/HBA1/HBA2 variants that cause secondary erythrocytosis due to abnormal oxygen delivery. It is important to note that only the variants cited in the literature should be linked to the Erythocytosis phenotype, as other variants may have links to other hematological phenotypes.
Created: 8 May 2017, 11:46 a.m.

Comment on list classification: More than 3 unrelated cases with different variants found in literature search.
Created: 5 May 2017, 10:05 a.m.

Created: 5 May 2017, 10:05 a.m.

Panel version: 0.52

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Literature

Phenotypes

Erythrocytosis 7, OMIM:617981

OMIM

141800

Clinvar variants

Variants in HBA1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

23 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: HBA1 were changed from Familial erythrocytosis to Erythrocytosis 7, OMIM:617981

9 May 2017, Gel status: 4