Living with X-linked sideroblastic anemia 1
An inherited blood condition where the body makes too little hemoglobin, causing tiredness and pale skin, and iron can build up in organs.
Understanding X-linked sideroblastic anemia 1
Red blood cells are smaller and paler than normal, and iron builds up in them. The signs come from too little hemoglobin and too much iron. Over time, iron buildup can cause heart disease and liver damage. Males often have symptoms from adolescence to early adulthood. Females are usually less affected, with features in mid to late adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low red blood cells or hemoglobin (anemia)
- Fatigue
- Muscle weakness
- Pale skin (pallor)
- Dizziness and a fast heartbeat
- Enlarged liver and spleen
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 ALAS2 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 ALAS2 gene cause this condition. It is inherited in an X-linked way, meaning the gene is on the X chromosome.
Also known as: anemia, hereditary sideroblastic 1, pyridoxine refractory; anemia, sideroblastic, 1; anemia, sideroblastic, 1, pyridoxine refractory; anemia, sideroblastic, 1, x-linked recessive; congenital sideroblastic anemia; erythroid 5-aminolevulinate synthase 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 X-linked sideroblastic anemia 1.
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