Living with Hemoglobin Lepore-beta-thalassemia syndrome
A rare inherited blood condition, from moderate anemia to anemia that needs regular transfusions.
Understanding Hemoglobin Lepore-beta-thalassemia syndrome
How it shows up varies widely, depending on the type of beta-thalassemia. Some people have severe anemia with small, pale red blood cells and need regular blood transfusions. Others have moderate anemia and do not need regular transfusions.
Signs & symptoms
Symptoms vary from person to person. Based on the summary, they can include:
- Anemia with small, pale red blood cells
- Anemia that is moderate and well compensated
- Need for regular blood transfusions in some people
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Cooley's Anemia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Cooley's Anemia Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Cooley's Anemia Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hblepore-beta-thalassemia syndrome; lepore-beta-thalassemia syndrome
Patient organizations
- Cooley's Anemia FoundationHemoglobin Lepore-beta-thalassemia syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Hemoglobin Lepore-beta-thalassemia syndrome.
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