Belgian Genetic Tests database
Hemoglobinopathy Toms River
| Name: |
Hemoglobinopathy Toms River
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| Description: |
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.
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| ORPHAcode: |
280615
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| Synonyms: |
Transient neonatal cyanosis and anemia due to Toms River Hemoglobin
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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