Hemoglobinopathy Toms River

Orpha code: 280615OMIM code: 613977

Definition

Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma 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.

Disease data
Classification

Disease

Synonyms
Transient neonatal cyanosis and anemia due to Toms River Hemoglobin
Przejściowa sinica i niedokrwistość noworodkowa z powodu hemoglobiny Toms River
ORPHA code
280615
OMIM code
613977
ICD10 code
D58.2
ICD11 code
-

No additional description.

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