Living with Sickle cell-hemoglobin E disease syndrome
A rare genetic blood condition that is usually mild, with small red blood cells and rare pain episodes.
Understanding Sickle cell-hemoglobin E disease syndrome
It is usually marked by mild breakdown of small red blood cells. Blocked blood vessels are very rare. GARD notes that severe problems have been reported, including blood in the urine, spleen damage, acute chest syndrome, pain episodes and temporary bone marrow damage.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, features include:
- Mild breakdown of red blood cells
- Small red blood cells
- Blood in the urine (less common)
- Episodes of pain (less common)
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
Sickle Cell Disease 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: Sickle Cell Disease 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 Sickle Cell Disease Association of America and other patient organizations
- 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 lists changes in the HBB gene: one sickle change plus a hemoglobin E change. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: double heterozygous for hb s + hb e; hbs-hbe disease; hbse disease; hemoglobin s-e disease; hemoglobin s/e disease; sickle cell anemia with hemoglobin e disease
Patient organizations
- Sickle Cell Disease Association of AmericaSickle cell-hemoglobin E disease syndrome · United States
- Sickle Cell Disease FoundationSickle cell-hemoglobin E disease syndrome · United States
- Sickle Cell ConsortiumSickle cell-hemoglobin E disease syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Sickle cell-hemoglobin E disease syndrome.
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