Cytopenias and congenital anaemias
Gene: HBBEnsemblGeneIds (GRCh38): ENSG00000244734
EnsemblGeneIds (GRCh37): ENSG00000244734
OMIM: 141900, Gene2Phenotype
HBB is in 7 panels
4 reviews
Ellen McDonagh (Genomics England Curator)
Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412Created: 14 May 2018, 9:40 a.m.
Arianna Tucci (Genomics England Curator)
Different mutations are associated with different phenotypes. Sickle cell disease encompasses a group of disorders associated with pathogenic variants in HBB and defined by the presence of predominantly hemoglobin S (Hb S). Hemoglobin S results from a single nucleotide variant in HBB (Glu6Val). Sickle cell anemia (homozygous Hb SS) accounts for 60%-70% of sickle cell disease in the US. Sickle cell disease may also result from coinheritance of the HBB Glu6Val hemoglobin S pathogenic variant with a second HBB pathogenic variant, such as: Glu6Lys, Glu121Gln, Glu121Lys, Glu26Lys, or beta thalassemia variants.
Beta-thalassemia can be caused by homozygous or compound heterozygous mutation in HBB. Beta-thalassemia may also be due to deletion of the entire beta-globin gene cluster or of sequences 5-prime from the beta-globin gene cluster (these sequences are referred to as the locus control region beta).
Hereditary persistence of fetal hemoglobin (HPFH) can result from deletions within or encompassing HBB.Created: 10 Mar 2017, 4:28 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Sickle cell anemia 603903; Delta-beta thalassemia 141749; Heinz body anemias, beta-140700; Hereditary persistence of fetal hemoglobin 141749
Louise Daugherty (Genomics England Curator)
Comment on list classification: Needs further discussion with clinical teamCreated: 2 Mar 2017, 2:43 p.m.
Comment on phenotypes: added known MOI that are specific to the disordersCreated: 1 Mar 2017, 12:46 p.m.
Comment on phenotypes: updated relevant phenotypes from OMIMCreated: 28 Feb 2017, 5:27 p.m.
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Globin Disorder
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- 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
- OMIM
- 141900
- Clinvar variants
- Variants in HBB
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: HBB were changed from Delta-beta thalassemia, OMIM:141749; Heinz body anemia, OMIM:140700; Methemoglobinemia, beta type, OMIM:617971; Thalassemia, beta, OMIM:613985; Thalassemia-beta, dominant inclusion-body, OMIM:603902; Sickle cell anemia, OMIM:603903 to 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: HBB were changed from Globin Disorder; Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749; Erythremias, beta-; Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700; Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749; Methemoglobinemias, beta-; Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903; Thalassemia-beta, dominant inclusion-body, 603902; Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985 to Delta-beta thalassemia, OMIM:141749; Heinz body anemia, OMIM:140700; Methemoglobinemia, beta type, OMIM:617971; Thalassemia, beta, OMIM:613985; Thalassemia-beta, dominant inclusion-body, OMIM:603902; Sickle cell anemia, OMIM:603903
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for HBB were set to Globin Disorder; Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749; Erythremias, beta-; Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700; Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749; Methemoglobinemias, beta-; Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903; Thalassemia-beta, dominant inclusion-body, 603902; Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Upload gene information
Louise Daugherty (Genomics England Curator)HBB was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list
Upload gene information
Louise Daugherty (Genomics England Curator)HBB was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Upload gene information
Louise Daugherty (Genomics England Curator)HBB was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for HBB was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for HBB were set to Globin Disorder; Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749;Erythremias, beta-; Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700;Hereditary persistence of fetal hemoglobin;Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749;Methemoglobinemias, beta-;Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903;Thalassemia-beta, dominant inclusion-body, 603902;Thalassemias, beta-,613985
Created
Louise Daugherty (Genomics England Curator)HBB was created by LouiseD
Added New Source
Louise Daugherty (Genomics England Curator)HBB was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen