HBA1

hemoglobin subunit alpha 1
OMIM: 141800, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green HBA1 in Hereditary Erythrocytosis

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.35
Latest signed off version: v1.19 (30 Sep 2020)

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 1.39

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • HYDROPS FETALIS, NONIMMUNE, 236750
  • NIHF
  • HYDROPS FETALIS, ALPHA-THALASSEMIA-RELATED, INCLUDED
  • Hemoglobin H disease, nondeletional, 613978
  • Hb H disease
  • HEMOGLOBIN H HYDROPS FETALIS SYNDROME
  • Thalassemia, alpha-, 604131
  • Alpha thalassaemia
  • alpha thalassaemia major
  • Hb Bart's
Tags
  • monogenic-polygenic

Green HBA1 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.88

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Globin Disorder
  • Erythremias, alpha-
  • Heinz body anemias, alpha-, 140700
  • Hemoglobin H disease, nondeletional, 613978
  • Methemoglobinemias, alpha-
  • Thalassemias, alpha-, 604131
Tags
  • non-coding-known-pathogenic
  • cnv
  • deletions

Green HBA1 in Rare anaemia


Version 1.29
Latest signed off version: v1.2 (3 Mar 2020)

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
  • 604131 Thalassemias, alpha
  • Erythremias, alpha-
  • Globin Disorder
  • Methemoglobinemias, alpha-
  • Heinz body anemias, alpha-, 140700
  • 604131 Alpha thalassaemia
  • Hemoglobin H disease, nondeletional, 613978
  • Thalassemias, alpha-, 604131

Green HBA1 in Fetal anomalies


Version 1.749
Latest signed off version: v1.92 (21 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fetal hydrops
  • Thalassemia, alpha-, 604131

Green HBA1 in Severe Paediatric Disorders


Version 1.84

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, nondeletional, 613978
  • Heinz body anemias, alpha-, 140700
  • Thalassemias, alpha-, 604131
  • Methemoglobinemia, alpha type, 617973