Acquired idiopathic sideroblastic anemia

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2FDA treatments3Active trials20Specialists8Treatment centers

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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
Refractory anemia with ringed sideroblastsHP:0004828Anemia of inadequate productionHP:0010972Normochromic anemiaHP:0001895Normocytic anemiaHP:0001897Erythroid hyperplasiaHP:0012132Megaloblastic erythroid hyperplasiaHP:0200143Hypochromic anemiaHP:0001931Hyposegmentation of neutrophil nucleiHP:0011447Dysplastic granulopoesisHP:0012136Abnormal number of granulocyte precursorsHP:0012137Abnormal megakaryocyte morphologyHP:0012143Chronic infectionHP:0031035
Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗NORD ↗

FDA & Trial Timeline

5 events
Mar 2026PAIRS: Friend-Based AISA Intervention

State University of New York at Buffalo — NA

TrialNOT YET RECRUITING
Mar 2025OURA Ring Wearable Testing in MDS Patients: a Feasibility and Discovery Pilot Study

Sunnybrook Health Sciences Centre

TrialRECRUITING
Jan 2024Evaluation of Nitric Oxide Nasal Spray (NONS) for Treatment of Recurrent Acute Rhinosinusitis

Sanotize Research and Development corp. — PHASE2

TrialACTIVE NOT RECRUITING
Oct 2022Biocollection in MyeloDysplastic Syndrome (P-MDS)

University Hospital, Brest — NA

TrialRECRUITING
Nov 2006Vorinostat and Azacitidine in Treating Patients With Myelodysplastic Syndromes or Acute Myeloid Leukemia

National Cancer Institute (NCI) — PHASE1, PHASE2

TrialACTIVE NOT RECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

2 available

Azacitidine

AZACITIDINE· Dr. Reddy's Laboratories Inc.

indicated for treatment of adult patients with refractory anemia with ringed sideroblasts (if accompanied by neutropenia or thrombocytopenia or requiring transfusions)

Azacitidine

AZACITIDINE FOR· Pilnova Pharma Inc

indicated for the treatment of adult patients with refractory anemia with ringed sideroblasts (RARS) (if accompanied by neutropenia or thrombocytopenia or requiring transfusions)

Clinical Trials

3 recruitingView all trials with filters →
N/A1 trial
Biocollection in MyeloDysplastic Syndrome (P-MDS)
N/A
Actively Recruiting
PI: Nathalie Douet-Guilbert, MD,PhD (CHRU BREST) · Sites: Brest · Age: 1899 yrs
Other1 trial
OURA Ring Wearable Testing in MDS Patients: a Feasibility and Discovery Pilot Study
Actively Recruiting
· Sites: Toronto, Ontario · Age: 1899 yrs

Specialists

20 foundView all specialists →
JP
JianWu Dai, Ph.D
Specialist
PI on 4 active trials
BS
B. Smith
OKLAHOMA CITY, OK
Specialist
PI on 6 active trials
DC
Dolores Grosso, DNP, CRNP
Specialist
PI on 4 active trials
CP
Claudio G. Brunstein, MD, PhD
MINNEAPOLIS, MN
Specialist
PI on 6 active trials
AA
Alvaro Moreno Aspitia
Specialist
PI on 1 active trial
RK
Razelle Kurzrock
MILWAUKEE, WI
Specialist
PI on 1 active trial9 Acquired idiopathic sideroblastic anemia publications
SB
Stacey Berg
Specialist
PI on 1 active trial
RP
Robert J. Arceci, MD, PhD
Specialist
PI on 1 active trial
LS
Lewis R Silverman
WOODSIDE, NY
Specialist
PI on 1 active trial
LD
Lara Davis
Specialist
PI on 1 active trial
MT
Monica Thakar
SEATTLE, WA
Specialist
PI on 2 active trials

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Acquired idiopathic sideroblastic anemia.

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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

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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.