Living with Hemoglobin E/beta thalassemia disease
An inherited blood condition ranging from mild to severe anemia, found at a variety of ages.
Understanding Hemoglobin E/beta thalassemia disease
It is a form of beta-thalassemia. Some people have a mild form, like beta-thalassemia intermedia. Others have a form that looks like beta-thalassemia major. It can show up at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low red blood cell or hemoglobin count (anemia)
- Abnormal hemoglobin
- Decreased immune function (immunodeficiency)
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.
- 3Consider genetic testing
Changes in HBB are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 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
It is caused by changes in the HBB gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: beta e thalassemia; double heterozygous for hb e and beta thalassemia; e-beta-thalassemia; hbe-beta-thalassemia syndrome; hemoglobin e-beta-thalassemia syndrome
Patient organizations
- Cooley's Anemia FoundationHemoglobin E/beta thalassemia disease · United States
You are more than your diagnosis
Perspectives from people navigating life with Hemoglobin E/beta thalassemia disease.
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