Overview
Hemoglobin Lepore-beta-thalassemia syndrome is a rare blood disorder that affects how your body makes hemoglobin, the protein in red blood cells that carries oxygen throughout your body. This condition occurs when a person inherits two abnormal hemoglobin genes: one Hemoglobin Lepore gene and one beta-thalassemia gene. Hemoglobin Lepore is an unusual hemoglobin variant created by a fusion between the delta-globin and beta-globin genes, resulting in a hybrid hemoglobin that is produced in lower-than-normal amounts. When this is combined with a beta-thalassemia gene (which also reduces or eliminates normal beta-globin production), the result is a significant shortage of functional hemoglobin. Patients with this syndrome typically experience moderate to severe anemia, meaning their blood cannot carry enough oxygen to meet the body's needs. Symptoms often include fatigue, pale skin, weakness, poor growth in children, and enlargement of the spleen and liver. In more severe cases, the condition can resemble beta-thalassemia intermedia or even thalassemia major, requiring regular blood transfusions. The severity depends on the specific type of beta-thalassemia mutation inherited alongside the Hemoglobin Lepore gene. Treatment ranges from monitoring and folic acid supplementation in milder cases to regular blood transfusions and iron chelation therapy in more severe forms. Bone marrow transplantation may be considered in severe cases and can be curative. Gene therapy is an emerging area of research for related thalassemia conditions.
Key symptoms:
Chronic fatigue and tirednessPale or yellowish skinWeakness and low energyEnlarged spleen (splenomegaly)Enlarged liver (hepatomegaly)Poor growth or short stature in childrenDelayed pubertyBone changes in the face and skullDark-colored urineJaundice (yellowing of the eyes and skin)Shortness of breath with activityFrequent infectionsIron overload from transfusions
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Hemoglobin Lepore-beta-thalassemia syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Hemoglobin Lepore-beta-thalassemia syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Hemoglobin Lepore-beta-thalassemia syndrome.
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
Travel Grants
No travel grants are currently matched to Hemoglobin Lepore-beta-thalassemia syndrome.
Community
No community posts yet. Be the first to share your experience with Hemoglobin Lepore-beta-thalassemia syndrome.
Start the conversation →Latest news about Hemoglobin Lepore-beta-thalassemia syndrome
No recent news articles for Hemoglobin Lepore-beta-thalassemia syndrome.
Follow this condition to be notified when news becomes available.
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.How severe is my (or my child's) form of this condition, and what does that mean for treatment?,Will regular blood transfusions be needed, and how often?,What iron chelation therapy do you recommend, and what are the side effects?,Is bone marrow transplantation or gene therapy an option in our case?,What complications should I watch for, and how often should we have check-ups?,Should other family members be tested to see if they are carriers?,Are there any clinical trials or new treatments available for this condition?
Common questions about Hemoglobin Lepore-beta-thalassemia syndrome
What is Hemoglobin Lepore-beta-thalassemia syndrome?
Hemoglobin Lepore-beta-thalassemia syndrome is a rare blood disorder that affects how your body makes hemoglobin, the protein in red blood cells that carries oxygen throughout your body. This condition occurs when a person inherits two abnormal hemoglobin genes: one Hemoglobin Lepore gene and one beta-thalassemia gene. Hemoglobin Lepore is an unusual hemoglobin variant created by a fusion between the delta-globin and beta-globin genes, resulting in a hybrid hemoglobin that is produced in lower-than-normal amounts. When this is combined with a beta-thalassemia gene (which also reduces or elimin
How is Hemoglobin Lepore-beta-thalassemia syndrome inherited?
Hemoglobin Lepore-beta-thalassemia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hemoglobin Lepore-beta-thalassemia syndrome typically begin?
Typical onset of Hemoglobin Lepore-beta-thalassemia syndrome is childhood. Age of onset can vary across affected individuals.