Hemoglobinopathy Toms River

Orpha code: 280615OMIM code: 613977

Definicja

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
Klasyfikacja

Disease

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

No additional description.

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