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:
Sporadic
Usually appears on its own, not inherited from a parent
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Refractory anemia with excess blasts in transformation.
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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
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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.