HBB

hemoglobin subunit beta
OMIM: 141900, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green HBB 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 6, OMIM:617980
Tags
  • gene-therapy-trial
Red HBB in COVID-19 research


Level 2: Viral research
Version 1.146

review Not set
Sources
  • OMIM
Amber HBB in Cerebral vascular malformations


Level 2: Neurology
Version 4.10
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Emory Genetics Laboratory
Phenotypes
  • Sickle cell anemia, OMIM:603903
Tags
  • gene-therapy-trial
Green HBB 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
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Delta-beta thalassemia, OMIM:141749
  • Heinz body anemia, OMIM:140700
  • Hereditary persistence of fetal hemoglobin, OMIM:141749
  • Methemoglobinemia, beta type, OMIM:617971
  • Thalassemia, beta, OMIM:613985
  • Thalassemia-beta, dominant inclusion-body, OMIM:603902
  • Sickle cell anemia, OMIM:603903
Tags
  • gene-therapy-trial
  • cnv
Green HBB 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
  • Delta-beta thalassemia, OMIM:141749
  • Heinz body anemia, OMIM:140700
  • Hereditary persistence of fetal hemoglobin, OMIM:141749
  • Methemoglobinemia, beta type, OMIM:617971
  • Thalassemia, beta, OMIM:613985
  • Thalassemia-beta, dominant inclusion-body, OMIM:603902
  • Sickle cell anemia, OMIM:603903
Green HBB 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, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Heinz body anemia, OMIM:140700
  • Delta-beta thalassemia, OMIM:141749
  • Hereditary persistence of fetal hemoglobin, OMIM:141749
  • Thalassemia-beta, dominant inclusion-body, OMIM:603902
  • Sickle cell disease, OMIM:603903
  • Thalassemia, beta, OMIM:613985
  • Methemoglobinemia, beta type, OMIM:617971
  • Erythrocytosis, familial, 6, OMIM:617980
  • dominant beta-thalassemia, MONDO:0011381
  • sickle cell disease, MONDO:0011382
  • beta-thalassemia HBB/LCRB, MONDO:0013517
  • hemoglobin M disease, MONDO:0018023
  • erythrocytosis, familial, 6, MONDO:0054801
Green HBB 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, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Heinz body anemia, OMIM:140700
  • Delta-beta thalassemia, OMIM:141749
  • Hereditary persistence of fetal hemoglobin, OMIM:141749
  • Thalassemia-beta, dominant inclusion-body, OMIM:603902
  • Sickle cell disease, OMIM:603903
  • Thalassemia, beta, OMIM:613985
  • Methemoglobinemia, beta type, OMIM:617971
  • Erythrocytosis, familial, 6, OMIM:617980
  • dominant beta-thalassemia, MONDO:0011381
  • sickle cell disease, MONDO:0011382
  • beta-thalassemia HBB/LCRB, MONDO:0013517
  • hemoglobin M disease, MONDO:0018023
  • erythrocytosis, familial, 6, MONDO:0054801