Living with X-linked sideroblastic anemia with ataxia
A rare inherited condition, mostly in males, with mild anemia and balance and coordination problems that start early in life.
Understanding X-linked sideroblastic anemia with ataxia
The anemia is usually mild. Red blood cells are small and pale, and iron builds up in them. Balance and coordination problems appear early in life and can make it hard to sit, stand and walk without help. Some people also have shaking, mild speech difficulty or unusual eye movements. It mainly occurs in males.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Ataxia (poor balance and coordination)
- Anemia with small, pale red blood cells
- Delayed walking and motor skills
- Delayed speech and language development
- Slurred or hard-to-articulate speech (dysarthria)
- Fast, rhythmic eye movements (nystagmus)
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, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in ABCB7 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Ataxia Foundation, United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Ataxia Foundation, United Mitochondrial Disease Foundation, MitoAction
- 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 National Ataxia Foundation and other patient organizations
- 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 ABCB7 gene cause this condition. GARD lists X-linked and mitochondrial inheritance.
Also known as: anaemia sideroblastic and spinocerebellar ataxia; anemia sideroblastic and spinocerebellar ataxia; anemia, sideroblastic, with ataxia, x-linked recessive; asat; pagon-bird-detter syndrome; scax6
Patient organizations
- National Ataxia FoundationX-linked sideroblastic anemia with ataxia · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked sideroblastic anemia with ataxia.
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