Overview
Acquired idiopathic sideroblastic anemia (AISA) is a rare blood disorder where the bone marrow — the spongy tissue inside your bones that makes blood cells — cannot produce healthy red blood cells properly. In this condition, iron gets trapped inside developing red blood cells in an abnormal ring-like pattern around the cell's nucleus. These abnormal cells are called 'ring sideroblasts.' Because the red blood cells cannot work correctly, the body does not get enough oxygen, leading to anemia. The word 'acquired' means this condition is not something you are born with — it develops during your lifetime. 'Idiopathic' means doctors cannot find a clear cause, such as a medication, toxin, or another disease, to explain why it happened. People with AISA often feel very tired and weak because their blood cannot carry enough oxygen to the body's organs and muscles. Other common symptoms include shortness of breath, pale skin, and a rapid heartbeat. Over time, because iron builds up in the body (since it cannot be used properly), organs like the heart and liver can be affected. AISA is also known as refractory anemia with ring sideroblasts (RARS) in some older medical classifications, and it falls under the broader group of conditions called myelodysplastic syndromes (MDS). Treatment focuses on managing anemia and preventing complications from iron overload. Options include blood transfusions, medications to stimulate red blood cell production, and iron-removing therapies. In some cases, a bone marrow transplant may be considered. While there is no guaranteed cure for most patients, many people live for years with good quality of life when the condition is carefully managed by a specialist.
Also known as:
Key symptoms:
Persistent tiredness and low energyShortness of breath, especially during activityPale or yellowish skinRapid or irregular heartbeatDizziness or lightheadednessHeadachesWeakness in musclesEnlarged spleen (feeling of fullness or discomfort on the left side of the abdomen)Enlarged liverJoint pain from iron buildupDifficulty concentrating or 'brain fog'Cold hands and feet
Clinical phenotype terms (28)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Adult
Begins in adulthood (age 18 or older)
FDA & Trial Timeline
5 eventsState University of New York at Buffalo — NA
Sunnybrook Health Sciences Centre
Sanotize Research and Development corp. — PHASE2
University Hospital, Brest — NA
National Cancer Institute (NCI) — PHASE1, PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
2 availableAzacitidine
indicated for treatment of adult patients with refractory anemia with ringed sideroblasts (if accompanied by neutropenia or thrombocytopenia or requiring transfusions)
Azacitidine
indicated for the treatment of adult patients with refractory anemia with ringed sideroblasts (RARS) (if accompanied by neutropenia or thrombocytopenia or requiring transfusions)
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Acquired idiopathic sideroblastic anemia.
Community
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Start the conversation →Latest news about Acquired idiopathic sideroblastic anemia
Disease timeline:
New recruiting trial: OURA Ring Wearable Testing in MDS Patients: a Feasibility and Discovery Pilot Study
A new clinical trial is recruiting patients for Acquired idiopathic sideroblastic anemia
New recruiting trial: Biocollection in MyeloDysplastic Syndrome (P-MDS)
A new clinical trial is recruiting patients for Acquired idiopathic sideroblastic anemia
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What stage or severity is my sideroblastic anemia, and what does that mean for my future?,Do I have the SF3B1 gene mutation, and how does that affect my treatment options and prognosis?,Am I a candidate for luspatercept (Reblozyl), and what are the expected benefits and side effects?,How often will I need blood transfusions, and when should we start iron chelation therapy?,Is a bone marrow transplant an option for me, and what would that involve?,What signs should prompt me to go to the emergency room?,Are there any clinical trials I should consider enrolling in?
Common questions about Acquired idiopathic sideroblastic anemia
What is Acquired idiopathic sideroblastic anemia?
Acquired idiopathic sideroblastic anemia (AISA) is a rare blood disorder where the bone marrow — the spongy tissue inside your bones that makes blood cells — cannot produce healthy red blood cells properly. In this condition, iron gets trapped inside developing red blood cells in an abnormal ring-like pattern around the cell's nucleus. These abnormal cells are called 'ring sideroblasts.' Because the red blood cells cannot work correctly, the body does not get enough oxygen, leading to anemia. The word 'acquired' means this condition is not something you are born with — it develops during your
How is Acquired idiopathic sideroblastic anemia inherited?
Acquired idiopathic sideroblastic anemia follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Acquired idiopathic sideroblastic anemia typically begin?
Typical onset of Acquired idiopathic sideroblastic anemia is adult. Age of onset can vary across affected individuals.
Are there clinical trials for Acquired idiopathic sideroblastic anemia?
Yes — 3 recruiting clinical trials are currently listed for Acquired idiopathic sideroblastic anemia on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Acquired idiopathic sideroblastic anemia?
20 specialists and care centers treating Acquired idiopathic sideroblastic anemia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.