Living with L-ferritin deficiency
A rare genetic blood condition with low L-ferritin and sometimes seizures, restless legs, or hair loss, though some people have no symptoms.
Understanding L-ferritin deficiency
Some people have generalized seizures, an atypical form of restless legs syndrome, mild changes in thinking, and progressive hair loss. Others have no symptoms. It is noticed in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Restless legs
- Hair loss (alopecia)
- Mild changes in thinking
- No symptoms in some people
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 FTL 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
Changes in the FTL gene cause this condition. GARD lists autosomal dominant and autosomal recessive inheritance.
Also known as: l-ferritin deficiency, autosomal dominant; l-ferritin deficiency, dominant and recessive; lftd; lftd - l-ferritin 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 L-ferritin deficiency.
Explore research for L-ferritin deficiency
Explore actively recruiting L-ferritin deficiency studies with HealthSpark.
Find actively recruiting studies for L-ferritin 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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