HBB

HBB

hemoglobin subunit beta

HCNC Approved Symbol: HBB (HGNC:4827)
Genomic Coordinates: 11:5,225,464 - 5,227,071 (11p15.4)
Synonyms: CD113t-C, beta-globin
Disease Associations: This gene is associated with the following 9 diseases in OMIM.

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Diagnosed Cases

94Patients

In total, 94 patients were diagnosed with a variant in the HBB gene.

Frequently observed phenotypes(Top 5 only)

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

094
Patient count

Anemia: 36 (38.3%)
Patient Count: 36 (38.3%)
% of total patients presenting each phenotype is shown in parentheses.
36 (38.3%)
Hemolytic anemia: 27 (28.7%)
Patient Count: 27 (28.7%)
% of total patients presenting each phenotype is shown in parentheses.
27 (28.7%)
Sickled erythrocytes: 15 (16.0%)
Patient Count: 15 (16.0%)
% of total patients presenting each phenotype is shown in parentheses.
15 (16.0%)
Jaundice: 8 (8.5%)
Patient Count: 8 (8.5%)
% of total patients presenting each phenotype is shown in parentheses.
8 (8.5%)
Failure to thrive: 6 (6.4%)
Patient Count: 6 (6.4%)
% of total patients presenting each phenotype is shown in parentheses.
6 (6.4%)

Last updated: 2024-06-30