Overview
Genetic hemoglobinopathy is a broad term that refers to a group of inherited blood disorders caused by changes (mutations) in the genes that control how hemoglobin is made. Hemoglobin is the protein inside red blood cells that carries oxygen from your lungs to the rest of your body. When hemoglobin doesn't form correctly or isn't produced in the right amounts, it can lead to a range of health problems. Common types of hemoglobinopathies include sickle cell disease and thalassemia, but there are many rarer variants as well. The Orphanet code 466066 refers to a broader grouping of these genetic hemoglobin disorders. Symptoms can vary widely depending on the specific type and severity. Many people experience anemia (low red blood cell counts), which causes tiredness, pale skin, and shortness of breath. Some forms can cause episodes of pain, organ damage over time, or increased risk of infections. In milder forms, a person may have few or no symptoms and may only be identified through routine blood tests or newborn screening. Treatment depends on the specific type and how severe it is. Options range from monitoring and supportive care (such as folic acid supplements and blood transfusions) to more advanced therapies like hydroxyurea for sickle cell disease, iron chelation therapy for transfusion-dependent patients, and in some cases, bone marrow transplant or newer gene therapies. Early diagnosis through newborn screening programs has greatly improved outcomes for many patients.
Key symptoms:
Fatigue and low energyPale or yellowish skinShortness of breathEpisodes of pain, especially in bones and jointsFrequent infectionsDelayed growth in childrenEnlarged spleenDark-colored urineSwelling of hands and feet in young childrenGallstonesBone deformities in severe casesLeg ulcersIron overload from repeated transfusionsHeart problems over time
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
10 eventsElpen Pharmaceutical Co. Inc.
ScinnoHub Pharmaceutical Co., Ltd. — PHASE1
University of Illinois at Chicago — NA
Hillhurst Biopharmaceuticals, Inc. — PHASE1, PHASE2
University of California, San Francisco — NA
Universiti Teknologi Mara — NA
Haikou Affiliated Hospital of Central South University Xiangya School of Medicine
Bristol-Myers Squibb — PHASE1, PHASE2
The University of Hong Kong — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Genetic hemoglobinopathy.
11 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
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
Travel Grants
No travel grants are currently matched to Genetic hemoglobinopathy.
Community
No community posts yet. Be the first to share your experience with Genetic hemoglobinopathy.
Start the conversation →Latest news about Genetic hemoglobinopathy
Disease timeline:
New recruiting trial: A Phase I Study of SNH-119014 in Healthy Volunteers
A new clinical trial is recruiting patients for Genetic hemoglobinopathy
New recruiting trial: Second or Greater Allogeneic Hematopoietic Stem Cell Transplant Using Reduced Intensity Conditioning (RIC)
A new clinical trial is recruiting patients for Genetic hemoglobinopathy
New recruiting trial: Thal-Fabs: Reduced Toxicity Conditioning for High Risk Thalassemia
A new clinical trial is recruiting patients for Genetic hemoglobinopathy
New recruiting trial: Effect of Exercise on Body Composition and Bone Health in Patients With Thalassemia
A new clinical trial is recruiting patients for Genetic hemoglobinopathy
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 hemoglobinopathy does my child (or do I) have, and how severe is it?,Should other family members be tested for carrier status?,What treatments are recommended, and what are the potential side effects?,What warning signs should I watch for that require emergency care?,Is my child (or am I) a candidate for bone marrow transplant or gene therapy?,How often will blood tests and specialist visits be needed?,Are there any activity restrictions, dietary changes, or lifestyle adjustments I should know about?
Common questions about Genetic hemoglobinopathy
What is Genetic hemoglobinopathy?
Genetic hemoglobinopathy is a broad term that refers to a group of inherited blood disorders caused by changes (mutations) in the genes that control how hemoglobin is made. Hemoglobin is the protein inside red blood cells that carries oxygen from your lungs to the rest of your body. When hemoglobin doesn't form correctly or isn't produced in the right amounts, it can lead to a range of health problems. Common types of hemoglobinopathies include sickle cell disease and thalassemia, but there are many rarer variants as well. The Orphanet code 466066 refers to a broader grouping of these genetic
Are there clinical trials for Genetic hemoglobinopathy?
Yes — 11 recruiting clinical trials are currently listed for Genetic hemoglobinopathy on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Genetic hemoglobinopathy?
25 specialists and care centers treating Genetic hemoglobinopathy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.