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Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

MedGen UID:
543715
Concept ID:
C0271994
Disease or Syndrome
Synonyms: Hereditary persistence of fetal hemoglobin thalassemia; hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome; HPFH (hereditary persistence of fetal hemoglobin) beta-thalassemia syndrome; HPFH-beta-thalassemia syndrome
SNOMED CT: Hereditary persistence of fetal hemoglobin thalassemia (16964007); HPFH (hereditary persistence of fetal hemoglobin) beta-thalassemia syndrome (16964007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0018749
Orphanet: ORPHA46532

Definition

Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

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