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Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing

Gene: HBA1

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #140700, #604131, #613978, #617973 & #617981), and the OMIM records were last accessed on 20 December 2025.
Created: 20 Dec 2025, 4:01 p.m. | Last Modified: 20 Dec 2025, 4:01 p.m.
Panel Version: 2.4
HBA1 has been added to the panel for R361 Haemoglobinopathy trait or carrier testing with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 1:26 p.m. | Last Modified: 6 Jul 2023, 9:31 a.m.
Panel Version: 0.1

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Created: 30 Jun 2023, 1:26 p.m.
Last Modified: 6 Jul 2023, 9:31 a.m.
Panel version: 0.1

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
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
OMIM
141800
Clinvar variants
Variants in HBA1
Penetrance
None
Panels with this gene

History Filter Activity

20 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: HBA1 were changed from to 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

29 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: HBA1 was added gene: HBA1 was added to Haemoglobinopathy trait or carrier testing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HBA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal