Living with Anemia, hypochromic microcytic with iron overload
An inherited anemia present at birth in which red blood cells can't get enough iron, and the extra iron builds up in the liver.
Understanding Anemia, hypochromic microcytic with iron overload
Red blood cells can't reach the iron in the blood, so fewer are made, and this shows from birth. The ones that are made are small (microcytic) and pale (hypochromic). Unused iron collects in the liver and can affect its function over time. Liver problems typically show in adolescence or early adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD's summary says they include:
- Anemia (low red blood cells) from birth
- Pale skin (pallor)
- Tiredness (fatigue)
- Slow growth
- Liver problems from iron buildup
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 red blood cells can't access iron in the blood because the transport of iron in cells is impaired. It doesn't name a gene.
Also known as: anemia, hypochromic microcytic, with iron overload; hypochromic microcytic anemia with iron overload; microcytic anemia and hepatic iron overload
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 Anemia, hypochromic microcytic with iron overload.
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