Living with Sideroblastic anemia 3
A very rare genetic form of anemia described in one adult, with small red blood cells and extra iron in the liver.
Understanding Sideroblastic anemia 3
It is linked to a change in the GLRX5 gene. GARD describes it in a single patient who developed anemia as an adult, with small, pale red blood cells, extra iron in the liver and type 2 diabetes.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, features include:
- Anemia with small, pale red blood cells
- Extra iron in the liver
- Type 2 diabetes
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 GLRX5 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
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: 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 United Mitochondrial Disease 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
GARD lists a splice change in the GLRX5 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: adult-onset autosomal recessive sideroblastic anaemia; adult-onset autosomal recessive sideroblastic anemia; anemia, sideroblastic, 3, pyridoxine-refractory; glrx5-related sideroblastic anaemia; glrx5-related sideroblastic anemia; sidba3
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
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