Orphanet: Hemoglobinopathy Toms River
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Hemoglobinopathy Toms River

Disease definition

Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gama subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.

ORPHA:280615

Classification level: Disorder
  • Synonym(s):
    • Transient neonatal cyanosis and anemia due to Toms River Hemoglobin
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D58.2
  • OMIM: 613977
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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