Living with Microcytic anemia with liver iron overload
A rare inherited condition where red blood cells cannot get enough iron, causing anemia and iron build-up in the liver.
Understanding Microcytic anemia with liver iron overload
Red blood cells cannot reach the iron in the blood, so the body makes fewer of them. The ones it makes are small (microcytic) and pale. Anemia can leave people feeling tired and weak. Iron that is not used builds up in the liver and can eventually lead to liver problems. Signs are seen in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low red blood cell or hemoglobin level (anemia)
- Small red blood cells
- Pale red blood cells (hypochromia)
- Extra growth of red blood cell-making tissue (erythroid hyperplasia)
- Feeling tired and weak
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 SLC11A2 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
This condition is caused by changes in the SLC11A2 gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: anemia, hypochromic microcytic, with iron overload 1; anemia, hypochromic microcytic, with iron overload type 1
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
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