Refractory anemia with excess blasts
Refractory Anemia with Excess Blasts (RAEB) is a type of myelodysplastic syndrome (MDS), which is a group of disorders caused by poorly formed or dysfunctional blood cells. RAEB is characterized by anemia that does not respond to standard treatments and an increased number of immature blood cells, known as blasts, in the bone marrow and blood.
Clinical Features[edit | edit source]
Patients with RAEB often present with symptoms related to anemia, such as fatigue, weakness, and pallor. Due to the increased number of blasts, there is also a risk of progression to acute myeloid leukemia (AML). Other symptoms may include easy bruising or bleeding due to thrombocytopenia and increased susceptibility to infections due to neutropenia.
Diagnosis[edit | edit source]
The diagnosis of RAEB is based on a combination of clinical findings, blood tests, and bone marrow examination. Key diagnostic criteria include:
- Peripheral Blood Smear: Shows anemia, often with macrocytic red blood cells, and may show blasts.
- Bone Marrow Biopsy: Reveals dysplastic changes in the bone marrow cells and an increased percentage of blasts (5-19%).
- Cytogenetic Analysis: May show chromosomal abnormalities that are common in MDS.
Classification[edit | edit source]
RAEB is classified into two subtypes based on the percentage of blasts in the bone marrow:
Treatment[edit | edit source]
Treatment options for RAEB depend on the patient's age, overall health, and specific disease characteristics. Common approaches include:
- Supportive Care: Blood transfusions and growth factors to manage symptoms.
- Disease-Modifying Therapies: Hypomethylating agents such as azacitidine or decitabine.
- Allogeneic Stem Cell Transplantation: The only potential cure, suitable for younger patients with a suitable donor.
Prognosis[edit | edit source]
The prognosis for patients with RAEB varies based on several factors, including the percentage of blasts, cytogenetic abnormalities, and response to treatment. RAEB-2 generally has a worse prognosis than RAEB-1 due to the higher risk of progression to AML.
Research and Future Directions[edit | edit source]
Ongoing research is focused on understanding the genetic and molecular basis of RAEB, developing targeted therapies, and improving outcomes for patients through clinical trials.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Refractory anemia with excess blasts is a rare disease.
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Contributors: Prab R. Tumpati, MD
