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5 OMIM references -
5 associated genes
6 signs/symptoms
PROTEIN INTERACTIONS: 3
1 OMIM reference -
1 associated gene
8 signs/symptoms
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary cerebral hemorrhage with amyloidosis, Dutch type

BCL11A APP
HBB
HBG1
HBG2
KLF1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BCL11A
HBG1
HBG2
(0.56)
(0.56)
(0.56)
APP
APP
APP



Citations in the biomedical literature:


Hereditary persistence of fetal hemoglobin - beta-thalassemia
BCL11A HBB HBG1 HBG2 KLF1
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
APP



Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary cerebral hemorrhage with amyloidosis, Dutch type

Synonym(s):
- HPFH - beta-thalassemia

Synonym(s):
- HCHWA, Dutch type
- HCHWA-D

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
(no data available)

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: <1 / 1 000 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant

External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
2 MeSH references: C537944 / D028243

Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary cerebral hemorrhage with amyloidosis, Dutch type

Very frequent
- Anaemia
- Hemoglobinosis / hemoglobinopathy
- Pallor
- Splenomegaly

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



Very frequent
- Facial pain / cephalalgia / migraine
- Intracranial / cerebral / meningeal hemorrhage
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline

Frequent
- Intracranial / cerebral calcifications
- Seizures / epilepsy / absences / spasms / status epilepticus
- Transient cerebral ischemia / stroke

Occasional
- Early death / lethality