Living with Hemoglobin E disease
A mild inherited blood condition with an abnormal hemoglobin, often with no symptoms.
Understanding Hemoglobin E disease
People may have very mild anemia, but the condition typically does not cause any symptoms. The genetic change that causes it mainly occurs in Southeast Asian populations, and rarely in Chinese populations. It can be found at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Abnormal hemoglobin
- Mild anemia
- Smaller, paler red blood cells
- Less hemoglobin A
- Higher red blood cell count
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 a genetic change in the HBB gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hb-e disease; hemoglobin e-e disease; homozygous for hb e
Patient organizations
- Cooley's Anemia FoundationHemoglobin E disease · United States
You are more than your diagnosis
Perspectives from people navigating life with Hemoglobin E disease.
Explore research for Hemoglobin E disease
Explore actively recruiting Hemoglobin E disease studies with HealthSpark.
Find actively recruiting studies for Hemoglobin E disease with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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