HBA2

hemoglobin subunit alpha 2
OMIM: 141850, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green HBA2 in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.313

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Thalassemia, alpha-, MIM# 604131
Tags
  • SV/CNV

Green HBA2 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Erythrocytosis 7, MIM# 617981
  • Heinz body anaemia, MIM# 140700
  • Haemoglobin H disease, deletional and nondeletional, MIM# 613978
  • Thalassaemia, alpha-, MIM# 604131
Tags
  • SV/CNV

Green HBA2 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Thalassemia, alpha

Green HBA2 in Red cell disorders


Level 2: Haematological disorders
Version 1.24

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
Phenotypes
  • Thalassemia, alpha-, MIM# 604131
  • Heinz body anaemia, MIM# 140700
  • Erythrocytosis 7, MIM# 617981

Green HBA2 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Thalassaemia, alpha-, 604131
  • Fetal hydrops

Red HBA2 in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Erythrocytosis 7, MIM# 617981
  • Heinz body anaemia, MIM# 140700
  • Haemoglobin H disease, deletional and nondeletional, MIM# 613978
  • Thalassaemia, alpha-, MIM# 604131

Amber HBA2 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • BabySeq Category A gene
  • BeginNGS
Phenotypes
  • Thalassemia, alpha, MIM#604131
Tags
  • treatable
  • haematological
  • technically challenging