Living with Iron-refractory iron deficiency anemia
A type of anemia that does not improve with iron pills and only partly improves with iron given by IV, causing tiredness and pale skin.
Understanding Iron-refractory iron deficiency anemia
Anemia means too few healthy red blood cells to carry oxygen. In this type, red blood cells are small (microcytic) and pale (hypochromic). The condition does not respond to iron taken by mouth and only partly responds to iron given by IV. Symptoms are strongest in childhood but tend to be mild. Growth and development are usually normal.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Tiredness (fatigue)
- Weakness
- Pale skin
- Small, pale red blood cells
- Low iron anemia
- Hair loss (less common)
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 TMPRSS6 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 TMPRSS6 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: anemia, hypochromic microcytic, with defect in iron metabolism; irida; irida (iron-refractory iron deficiency anemia) syndrome; irida syndrome; iron-handling disorder, hereditary; iron-refractory iron deficiency anaemia
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 Iron-refractory iron deficiency anemia.
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