HBA1

hemoglobin subunit alpha 1
OMIM: 141800, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green HBA1 in Hereditary Erythrocytosis Level 2: Haematology Version 2.17 Latest signed off version: v2.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Erythrocytosis 7, OMIM:617981
Green HBA1 in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.95	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Thalassemias, alpha-, OMIM:604131 Fatal hydrops fetalis Hb Bart syndrome Tags monogenic-polygenic
Green HBA1 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen 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 Tags non-coding-known-pathogenic cnv deletions
Green HBA1 in Rare anaemia Level 2: Haematology Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH 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 HBA1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thalassemias, alpha-, OMIM:604131 Fatal hydrops fetalis Hb Bart syndrome
Green HBA1 in Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing Level 2: Haematology Version 2.9 Latest signed off version: v2.2 (30 Apr 2025)	review	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
Green HBA1 in Sickle cell, thalassaemia and other haemoglobinopathies Level 2: Haematology Version 2.9 Latest signed off version: v2.2 (30 Apr 2025)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS 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