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Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing

Gene: HBB

Green List (high evidence)
HBB (hemoglobin subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000244734
EnsemblGeneIds (GRCh37): ENSG00000244734
OMIM: 141900, Gene2Phenotype
HBB is in 7 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #140700, #141749, #603902, #603903, #613985, #617971 & #617980), and the OMIM records were last accessed on 20 December 2025.
Created: 20 Dec 2025, 5:47 p.m. | Last Modified: 20 Dec 2025, 5:47 p.m.
Panel Version: 2.6
HBB has been added to the panel for R361 Haemoglobinopathy trait or carrier testing with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 1:26 p.m. | Last Modified: 6 Jul 2023, 9:32 a.m.
Panel Version: 0.1

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 30 Jun 2023, 1:26 p.m.
Last Modified: 6 Jul 2023, 9:32 a.m.
Panel version: 0.1

Details

Mode of Inheritance
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
OMIM
141900
Clinvar variants
Variants in HBB
Penetrance
None
Panels with this gene

History Filter Activity

20 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: HBB were changed from to 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

29 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: HBB was added gene: HBB was added to Haemoglobinopathy trait or carrier testing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HBB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal