Living with Hemoglobinopathy Toms River
A rare inherited blood condition that causes a bluish tint and mild anemia in newborns, easing in early months.
Understanding Hemoglobinopathy Toms River
Newborns have a bluish color (cyanosis), low hemoglobin oxygen readings without low oxygen in the arteries, and moderate anemia. It is not linked to heart or lung disease. GARD says symptoms slowly ease during the first months of life.
Signs & symptoms
Symptoms vary from person to person. GARD describes these signs:
- Bluish skin in newborns (neonatal cyanosis)
- Low hemoglobin oxygen saturation
- Moderate anemia
- More young red blood cells (reticulocytosis)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists and genetic specialists.
- 3Consider genetic testing
Changes in HBG2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the HBG2 gene. It is autosomal dominant, so one changed copy of the gene is enough to cause it.
Also known as: transient neonatal cyanosis and anaemia due to toms river haemoglobin; transient neonatal cyanosis and anemia due to toms river hemoglobin
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
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Perspectives from people navigating life with Hemoglobinopathy Toms River.
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