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Hereditary persistence of fetal hemoglobin - beta-thalassemia
5 OMIM references -
5 associated genes
74 connected diseases
6 signs/symptoms
Disease Type of connection
Hereditary persistence of fetal hemoglobin - sickle cell disease
Delta-beta-thalassemia
Autosomal dominant methemoglobinemia
Hemoglobinopathy Toms River
Beta-thalassemia intermedia
Beta-thalassemia major
Dominant beta-thalassemia
Heinz body anemia
Hemoglobin C - beta-thalassemia
Hemoglobin C disease
Hemoglobin D disease
Hemoglobin E - beta-thalassemia
Hemoglobin E disease
Hemoglobin Lepore - beta-thalassemia
Sickle cell - beta-thalassemia disease
Sickle cell - hemoglobin C disease
Sickle cell - hemoglobin D disease
Sickle cell - hemoglobin E disease
Sickle cell anemia
Congenital dyserythropoietic anemia type IV
Coffin-Siris syndrome
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Early-onset autosomal dominant Alzheimer disease
Hb Bart's hydrops fetalis
Hemoglobin H disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Familial multiple meningioma
Familial rhabdoid tumor
Familial isolated dilated cardiomyopathy
Atypical teratoid tumor
Neurofibromatosis type 3
Follicular lymphoma
Intravascular large B-cell lymphoma
Primary mediastinal large B-cell lymphoma
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Ewing sarcoma
Extraskeletal Ewing sarcoma
Isolated delta-storage pool disease
Paris-Trousseau thrombocytopenia
Peripheral primitive neuroectodermal tumor
Goldmann-Favre syndrome
Retinitis pigmentosa
Autosomal recessive primary microcephaly
Dedifferentiated liposarcoma
Familial melanoma
Well-differentiated liposarcoma
Atrial septal defect, ostium secundum type
Autosomal agammaglobulinemia
Cowden syndrome
Familial isolated congenital asplenia
Huntington disease
Juvenile Huntington disease
Left ventricular noncompaction
Muscular dystrophy, Selcen type
Proteus syndrome
Richieri Costa-Pereira syndrome
Thrombocytopenia - absent radius
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Recessive hereditary methemoglobinemia type 1
Recessive hereditary methemoglobinemia type 2
Autosomal dominant Charcot-Marie-Tooth disease type 2K
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Charcot-Marie-Tooth disease type 2H
Charcot-Marie-Tooth disease type 4A
X-linked intellectual deficit with marfanoid habitus
X-linked non-syndromic intellectual deficit
Synonym(s):
- HPFH - beta-thalassemia
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 -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
5 OMIM references -
No MeSH references
Very frequent
- Anaemia
- Hemoglobinosis / hemoglobinopathy
- Pallor
- Splenomegaly

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