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5 OMIM references -
5 associated genes
6 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5
1 OMIM reference -
1 associated gene
12 signs/symptoms
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Beta-thalassemia intermedia

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
Beta-thalassemia intermedia



Hereditary persistence of fetal hemoglobin - beta-thalassemia
Beta-thalassemia intermedia

Synonym(s):
- HPFH - beta-thalassemia

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
- Rare renal 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: childhood
Average age of death: -
Type of inheritance: autosomal recessive

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


COMMON
SIGNS
- Anaemia
- Anomalies of bones / skeletal anomalies
- Hemoglobinosis / hemoglobinopathy
- Hepatomegaly / liver enlargement (excluding storage disease)
- Splenomegaly


Hereditary persistence of fetal hemoglobin - beta-thalassemia
Beta-thalassemia intermedia

Very frequent
- Pallor



Very frequent
- Microcytic anemia

Frequent
- Biliary / gallbladder stones / lithiasis / cholecystitis
- Hyperferritinemia / iron overload

Occasional
- Chronic skin infection / ulcerations / ulcers / cancrum
- Hepatic / liver neoplasm / tumor / carcinoma / cancer
- Pulmonary hypertension
- Venous thrombosis / phlebitis / thrombophlebitis