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5 OMIM references -
5 associated genes
6 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
1 associated gene
4 signs/symptoms
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hemoglobin E - beta-thalassemia

BCL11A HBB
HBB
HBG1
HBG2
KLF1


COMMON
GENES
HBB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HBG2
(0.52)
HBB



Citations in the biomedical literature:


Hereditary persistence of fetal hemoglobin - beta-thalassemia
BCL11A HBB HBG1 HBG2 KLF1
Hemoglobin E - beta-thalassemia



Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hemoglobin E - beta-thalassemia

Synonym(s):
- HPFH - beta-thalassemia

Synonym(s):
- E-beta-thalassemia
- HbE - beta-thalassemia

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive

External references:
5 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references


COMMON
SIGNS
- Anaemia
- Hemoglobinosis / hemoglobinopathy


Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hemoglobin E - beta-thalassemia

Very frequent
- Pallor
- Splenomegaly

Frequent
- Anomalies of bones / skeletal anomalies
- Hepatomegaly / liver enlargement (excluding storage disease)



Very frequent
- Immunodeficiency / increased susceptibility to infections / recurrent infections

Frequent
- Hyperferritinemia / iron overload