HBA2

hemoglobin subunit alpha 2
OMIM: 141850, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green HBA2 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
  • 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 1.95

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 HBA2 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 anemia, OMIM:140700
  • Hemoglobin H disease, deletional and nondeletional, OMIM:613978
  • Thalassemia, alpha-, OMIM:604131
Tags
  • cnv
  • structural-variant
Green HBA2 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 anemia, OMIM:140700
  • Hemoglobin H disease, deletional and nondeletional, OMIM:613978
  • Thalassemia, alpha-, OMIM:604131
Green HBA2 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 HBA2 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
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Heinz body anemias, alpha-, OMIM:140700
  • Thalassemias, alpha-, OMIM:604131
  • Hemoglobin H disease, deletional and nondeletional, OMIM:613978
  • Erythrocytosis, familial, 7, OMIM:617981
  • HBA2-related alpha thalassemia spectrum, MONDO:0100562
Green HBA2 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, deletional and nondeletional, OMIM:613978
  • Erythrocytosis, familial, 7, OMIM:617981
  • HBA2-related alpha thalassemia spectrum, MONDO:0100562