Living with Hereditary intrinsic factor deficiency
A rare inherited condition that causes a type of anemia and can affect nerves, starting in childhood.
Understanding Hereditary intrinsic factor deficiency
Symptoms can include slow weight gain (failure to thrive) and anemia symptoms such as tiredness and pale skin. Nerve damage can lead to confusion, depression, and numbness or tingling in the hands and feet. It starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Anemia with large red blood cells
- Lack of energy and strength
- Repeated infections
- Learning difficulties
- Memory and thinking changes (dementia)
- Slow growth
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 CBLIF 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 GIF gene (listed as CBLIF). It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: congenital deficiency of intrinsic factor; congenital intrinsic factor deficiency; congenital pernicious anaemia; congenital pernicious anemia; gastric intrinsic factor deficiency; hereditary juvenile megaloblastic anaemia due to intrinsic factor 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 Hereditary intrinsic factor deficiency.
Explore research for Hereditary intrinsic factor deficiency
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