Refractory anemia with excess blasts in transformation

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ORPHA:168960D46.2
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10Specialists8Treatment centers

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Overview

Refractory anemia with excess blasts in transformation (RAEB-T) is a subtype of myelodysplastic syndrome (MDS), a group of clonal hematologic disorders characterized by ineffective blood cell production (hematopoiesis) in the bone marrow. RAEB-T was originally classified under the French-American-British (FAB) classification system and is defined by the presence of 20–30% blasts (immature blood cells) in the bone marrow, or the presence of Auer rods in blast cells, or more than 5% blasts in the peripheral blood. Under the current World Health Organization (WHO) classification, cases previously categorized as RAEB-T are now generally reclassified as acute myeloid leukemia (AML). The disease primarily affects the hematopoietic (blood-forming) system, leading to bone marrow failure and cytopenias. Patients with RAEB-T typically present with symptoms related to low blood counts, including fatigue, weakness, and pallor due to anemia; increased susceptibility to infections resulting from neutropenia (low white blood cells); and easy bruising or bleeding caused by thrombocytopenia (low platelet counts). Some patients may experience fevers, weight loss, or an enlarged spleen. The condition carries a high risk of progression to overt acute myeloid leukemia and is associated with a poor prognosis, with median survival often measured in months without treatment. Treatment options for RAEB-T include supportive care such as blood transfusions and antibiotics, hypomethylating agents (azacitidine and decitabine), and intensive chemotherapy regimens similar to those used for AML. Allogeneic hematopoietic stem cell transplantation remains the only potentially curative therapy and is considered for eligible patients, particularly younger individuals with suitable donors. The choice of treatment depends on the patient's age, overall health, and cytogenetic risk profile.

Also known as:

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 ↗

Treatments

No FDA-approved treatments are currently listed for Refractory anemia with excess blasts in transformation.

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Specialists

10 foundView all specialists →
CD
Colleen Delaney
OLD GREENWICH, CT
Specialist
PI on 3 active trials
FG
Francis Giles
SAN ANTONIO, TX
Specialist
PI on 4 active trials
AA
Alvaro Moreno Aspitia
Specialist
PI on 1 active trial
RK
Razelle Kurzrock
MILWAUKEE, WI
Specialist
PI on 1 active trial9 Refractory anemia with excess blasts in transformation publications
SG
Steven Grant
Specialist
PI on 2 active trials20 Refractory anemia with excess blasts in transformation publications
BJ
Brian Jonas
SACRAMENTO, CA
Specialist
PI on 2 active trials1 Refractory anemia with excess blasts in transformation publication
MB
Merav Bar
SEATTLE, WA
Specialist
PI on 1 active trial2 Refractory anemia with excess blasts in transformation publications
TD
Tamila Kindwall-Keller, DO
Specialist
PI on 1 active trial19 Refractory anemia with excess blasts in transformation publications

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

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Common questions about Refractory anemia with excess blasts in transformation

What is Refractory anemia with excess blasts in transformation?

Refractory anemia with excess blasts in transformation (RAEB-T) is a subtype of myelodysplastic syndrome (MDS), a group of clonal hematologic disorders characterized by ineffective blood cell production (hematopoiesis) in the bone marrow. RAEB-T was originally classified under the French-American-British (FAB) classification system and is defined by the presence of 20–30% blasts (immature blood cells) in the bone marrow, or the presence of Auer rods in blast cells, or more than 5% blasts in the peripheral blood. Under the current World Health Organization (WHO) classification, cases previously

How is Refractory anemia with excess blasts in transformation inherited?

Refractory anemia with excess blasts in transformation follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Refractory anemia with excess blasts in transformation typically begin?

Typical onset of Refractory anemia with excess blasts in transformation is adult. Age of onset can vary across affected individuals.

Which specialists treat Refractory anemia with excess blasts in transformation?

10 specialists and care centers treating Refractory anemia with excess blasts in transformation are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.