Overview
Acute erythroid leukemia (AEL) is a rare and aggressive type of blood cancer that affects the bone marrow — the spongy tissue inside your bones where blood cells are made. In this disease, abnormal immature red blood cell precursors (called erythroblasts) grow out of control and crowd out healthy blood cells. This leads to serious problems with the body's ability to carry oxygen, fight infections, and stop bleeding. AEL is also sometimes called erythroleukemia or Di Guglielmo disease, named after the physician who first described it. People with AEL often feel extremely tired, look pale, bruise easily, and get infections more often than usual. They may also experience bone pain, fever, and unexplained weight loss. Because healthy blood cells are being replaced by cancerous ones, the body struggles to function normally. Treatment for AEL is challenging and typically involves intensive chemotherapy, similar to other forms of acute myeloid leukemia (AML). For eligible patients, a stem cell transplant (bone marrow transplant) offers the best chance of long-term remission. Researchers are actively studying new targeted therapies to improve outcomes for this difficult-to-treat cancer.
Also known as:
Key symptoms:
Extreme tiredness and weaknessPale or yellowish skinShortness of breath, even with light activityFrequent or severe infectionsEasy bruising or unusual bleedingBone or joint painFever without a clear causeUnexplained weight lossNight sweatsSwollen lymph nodesEnlarged spleen or liver causing belly discomfortFeeling full quickly when eating
Clinical phenotype terms (9)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
1 eventNational Cancer Institute (NCI) — PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableElitek
initial management of plasma uric acid levels in pediatric and adult patients with leukemia who are receiving anticancer therapy expected to result in tumor lysis and subsequent elevation of plasma ur…
initial management of plasma uric acid levels in pediatric and adult patients with leukemia who are receiving anticancer therapy expected to result in tumor lysis and subsequent elevation of plasma uric acid
Rare Disease Specialist
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
Financial Resources
1 resourcesTravel Grants
No travel grants are currently matched to Acute erythroid leukemia.
Community
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Start the conversation →Latest news about Acute erythroid leukemia
Disease timeline:
New trial: Widefield Fluorescence and Reflectance Imaging Systems and Oral Tissue Samples in Monitoring Partici
Phase NA trial recruiting. Cytology Specimen Collection Procedure
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 specific type of acute erythroid leukemia do I have, and what do my genetic test results mean for my treatment options?,Am I a candidate for a stem cell transplant, and if so, when would that happen?,Are there any clinical trials I should consider for my specific situation?,What are the most likely side effects of the chemotherapy you are recommending, and how will they be managed?,How will we know if the treatment is working, and what happens if it does not?,Should I be tested for inherited cancer risk genes, and should my family members be tested?,What support services — such as social work, nutrition counseling, or mental health support — are available to me and my family?
Common questions about Acute erythroid leukemia
What is Acute erythroid leukemia?
Acute erythroid leukemia (AEL) is a rare and aggressive type of blood cancer that affects the bone marrow — the spongy tissue inside your bones where blood cells are made. In this disease, abnormal immature red blood cell precursors (called erythroblasts) grow out of control and crowd out healthy blood cells. This leads to serious problems with the body's ability to carry oxygen, fight infections, and stop bleeding. AEL is also sometimes called erythroleukemia or Di Guglielmo disease, named after the physician who first described it. People with AEL often feel extremely tired, look pale, brui
How is Acute erythroid leukemia inherited?
Acute erythroid leukemia follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Acute erythroid leukemia?
Yes — 1 recruiting clinical trial is currently listed for Acute erythroid leukemia on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Acute erythroid leukemia?
25 specialists and care centers treating Acute erythroid leukemia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.