Gene Symbol:
HBB
HGNC:4827
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
11p15.4
Filters:

Definitive classifications

beta-thalassemia HBB/LCRB
Submitted as: OMIM:613985
SD
02/20/2018
Evaluated
03/02/2021
Submitted
dominant beta-thalassemia
AD
03/22/2023
Evaluated
10/18/2023
Submitted
sickle cell disease and related diseases
AR
08/23/2023
Evaluated
10/18/2023
Submitted
beta-thalassemia HBB/LCRB
AR
04/26/2023
Evaluated
10/18/2023
Submitted

Strong classifications

erythrocytosis, familial, 6
Submitted as: OMIM:617980
AD
09/30/2020
Evaluated
03/31/2021
Submitted
sickle cell anemia
Submitted as: OMIM:603903
AR
10/15/2021
Evaluated
11/30/2023
Submitted
dominant beta-thalassemia
Submitted as: OMIM:603902
AD
09/15/2022
Evaluated
11/30/2023
Submitted
Heinz body anemia
Submitted as: OMIM:140700
AD
06/29/2023
Evaluated
11/30/2023
Submitted
beta-thalassemia HBB/LCRB
Submitted as: OMIM:613985
AR
07/05/2023
Evaluated
11/30/2023
Submitted
erythrocytosis, familial, 6
Submitted as: OMIM:617980
AD
07/06/2018
Evaluated
11/30/2023
Submitted

Moderate classifications

hemoglobin M disease
Submitted as: OMIM:617971
AD
02/20/2018
Evaluated
03/02/2021
Submitted

Supportive classifications

delta-beta-thalassemia
Submitted as: Orphanet:231237
AR
09/14/2021
Evaluated
09/14/2021
Submitted
beta-thalassemia intermedia
Submitted as: Orphanet:231222
AR
09/14/2021
Evaluated
09/14/2021
Submitted
sickle cell anemia
Submitted as: Orphanet:232
AR
09/14/2021
Evaluated
09/14/2021
Submitted
hemoglobin C disease
Submitted as: Orphanet:2132
AR
09/14/2021
Evaluated
09/14/2021
Submitted
hemoglobin E disease
Submitted as: Orphanet:2133
AR
09/14/2021
Evaluated
09/14/2021
Submitted
hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
Submitted as: Orphanet:46532
AD
09/14/2021
Evaluated
09/14/2021
Submitted
beta-thalassemia major
Submitted as: Orphanet:231214
AR
09/14/2021
Evaluated
09/14/2021
Submitted
hemoglobin M disease
Submitted as: Orphanet:330041
AD
09/14/2021
Evaluated
09/14/2021
Submitted
hemoglobin C-beta-thalassemia syndrome
Submitted as: Orphanet:231242
AR
09/14/2021
Evaluated
09/14/2021
Submitted
hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
Submitted as: Orphanet:251380
AR
09/14/2021
Evaluated
09/14/2021
Submitted
sickle cell-hemoglobin E disease syndrome
Submitted as: Orphanet:251375
AR
09/14/2021
Evaluated
09/14/2021
Submitted
sickle cell-hemoglobin d disease syndrome
Submitted as: Orphanet:251370
AR
09/14/2021
Evaluated
09/14/2021
Submitted
sickle cell-hemoglobin c disease syndrome
Submitted as: Orphanet:251365
AR
09/14/2021
Evaluated
09/14/2021
Submitted
dominant beta-thalassemia
Submitted as: Orphanet:231226
AD
09/14/2021
Evaluated
09/14/2021
Submitted
hemoglobin E-beta-thalassemia syndrome
Submitted as: Orphanet:231249
AR
09/14/2021
Evaluated
09/14/2021
Submitted
sickle cell-beta-thalassemia disease syndrome
Submitted as: Orphanet:251359
AR
09/14/2021
Evaluated
09/14/2021
Submitted

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.