Overview
Rare deficiency anemia (Orphanet code 248293) is a broad grouping term used to describe uncommon forms of anemia — a condition where your body does not have enough healthy red blood cells to carry oxygen to your tissues. Unlike more common types of anemia (such as iron deficiency anemia), rare deficiency anemias are caused by unusual nutritional deficiencies, inherited problems with how the body makes or maintains red blood cells, or other uncommon mechanisms that lead to low red blood cell counts. People with rare deficiency anemia may experience persistent tiredness, weakness, pale skin, shortness of breath, dizziness, and difficulty concentrating. In more severe cases, the heart may have to work harder to pump oxygen-rich blood, which can lead to a fast heartbeat or even heart problems over time. Children may show poor growth or delayed development. Treatment depends on the specific underlying cause. Some forms respond well to replacing the missing nutrient or vitamin, while others may require blood transfusions, medications that stimulate red blood cell production, or treatment of an underlying genetic condition. Because this is a grouping of many rare subtypes, getting an accurate diagnosis is essential to finding the right treatment. Working closely with a hematologist (blood specialist) and possibly a geneticist is important for proper management.
Key symptoms:
Persistent tiredness and fatiguePale skin or pale inner eyelidsShortness of breath, especially with activityDizziness or lightheadednessFast or irregular heartbeatWeakness in musclesDifficulty concentrating or brain fogCold hands and feetHeadachesPoor growth in childrenBrittle nailsYellowing of the skin in some typesLoss of appetite
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
1 eventData sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Rare deficiency anemia.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Rare deficiency anemia at this time.
New trials open frequently. Follow this disease to get notified.
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
3 resourcesLEUCOVORIN CALCIUM
Pfizer
Folate Deficiency Anemia
Sodium Ferric Gluconate Complex in Sucrose
Sanofi
Iron Deficiency Anemia
Ferumoxytol
Covis
Iron Deficiency Anemia
Travel Grants
No travel grants are currently matched to Rare deficiency anemia.
Community
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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 rare deficiency anemia do I or my child have?,What is causing the deficiency, and is it inherited?,What treatment options are available, and how long will treatment be needed?,How often will blood tests need to be done to monitor the condition?,Are there dietary changes that could help improve my blood counts?,Should my family members be tested for this condition?,What warning signs should prompt me to seek emergency care?
Common questions about Rare deficiency anemia
What is Rare deficiency anemia?
Rare deficiency anemia (Orphanet code 248293) is a broad grouping term used to describe uncommon forms of anemia — a condition where your body does not have enough healthy red blood cells to carry oxygen to your tissues. Unlike more common types of anemia (such as iron deficiency anemia), rare deficiency anemias are caused by unusual nutritional deficiencies, inherited problems with how the body makes or maintains red blood cells, or other uncommon mechanisms that lead to low red blood cell counts. People with rare deficiency anemia may experience persistent tiredness, weakness, pale skin, sh
Which specialists treat Rare deficiency anemia?
5 specialists and care centers treating Rare deficiency anemia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Rare deficiency anemia?
3 patient support programs are currently tracked on UniteRare for Rare deficiency anemia. See the treatments and support programs sections for copay assistance, eligibility, and contact details.