HBA2

hemoglobin subunit alpha 2
OMIM: 141850, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green HBA2 in Hereditary Erythrocytosis Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 2.6 Latest signed off version: v2.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Erythrocytosis 7, OMIM:617981
Green HBA2 in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.64	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 HBA2 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.118	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Erythrocytosis 7, OMIM:617981 Heinz body anemia, OMIM:140700 Hemoglobin H disease, deletional and nondeletional, OMIM:613978 Thalassemia, alpha-, OMIM:604131 Tags cnv structural-variant
Green HBA2 in Rare anaemia Version 3.8 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 anemia, OMIM:140700 Hemoglobin H disease, deletional and nondeletional, OMIM:613978 Thalassemia, alpha-, OMIM:604131
Green HBA2 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thalassemias, alpha-, OMIM:604131 Fatal hydrops fetalis Hb Bart syndrome
Green HBA2 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Erythrocytosis 7, 617981 Hemoglobin H disease, deletional and nondeletional, 613978 Thalassemia, alpha-, 604131 Heinz body anemia, 140700
Amber HBA2 in Haemoglobinopathy trait or carrier testing Version 1.7 Latest signed off version: v1.0 (14 Sep 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Tags Q4_23_promote_green
Amber HBA2 in Thalassaemia and other haemoglobinopathies Version 1.7 Latest signed off version: v1.0 (14 Sep 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Tags Q4_23_promote_green