Living with Anemia, sideroblastic, pyridoxine-responsive, autosomal recessive
A rare inherited blood disease in which red blood cells can't use iron properly, and the anemia improves with vitamin B6.
Understanding Anemia, sideroblastic, pyridoxine-responsive, autosomal recessive
It is a type of sideroblastic anemia. The bone marrow makes red blood cells that can't use iron properly, which leads to ring-shaped iron deposits in the cells. A person is affected when they receive a changed gene from both parents.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes anemia that improves with vitamin B6.
- Anemia (low red blood cells)
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 it follows an autosomal recessive pattern, so a child inherits a changed copy of a gene from each parent. It doesn't name a gene.
Also known as: anemia congenital sideroblastic b6-responsive; b6-responsive sideroblastic anemia; pyridoxine-responsive sideroblastic anemia
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, sideroblastic, pyridoxine-responsive, autosomal recessive.
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