Living with Atransferrinemia
A very rare inherited blood condition in which the body lacks transferrin, causing anemia and iron overload.
Understanding Atransferrinemia
It causes anemia, where red blood cells are small and pale, leading to paleness, tiredness, and slow growth. Iron also builds up in the body (iron overload). It begins in infancy and childhood. GARD notes it can be serious if left untreated.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Anemia (low red blood cells or hemoglobin)
- Paleness
- Tiredness
- Slow growth
- Frequent infections
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 TF 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
GARD says changes in the TF gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: congenital atransferrinaemia; congenital atransferrinemia; congenital hypotransferrinemia; familial hypotransferrinemia; hereditary atransferrinemia
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 Atransferrinemia.
Explore research for Atransferrinemia
Explore actively recruiting Atransferrinemia studies with HealthSpark.
Find actively recruiting studies for Atransferrinemia 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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