Living with Transcobalamin I deficiency
A rare genetic condition with low levels of a vitamin B12 carrier protein, usually with no symptoms.
Understanding Transcobalamin I deficiency
GARD describes it as benign. Blood levels of B12 may be low or very low, but other related blood tests are normal and there is no megaloblastic anemia. People are typically without symptoms. It is seen in adults and older adults.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet.
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- 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
GARD says changes in genes (variants) cause this condition. It lists both autosomal dominant and autosomal recessive inheritance and doesn't name a specific gene.
Also known as: cobalamin pseudodeficiency due to transcobalamin deficiency; cobalamin r binder protein deficiency; haptocorrin deficiency; r-binder deficiency; tci deficiency; tcn1 deficiency
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
You are more than your diagnosis
Perspectives from people navigating life with Transcobalamin I deficiency.
Explore research for Transcobalamin I deficiency
Explore actively recruiting Transcobalamin I deficiency studies with HealthSpark.
Find actively recruiting studies for Transcobalamin I deficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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