Living with Hereditary spherocytosis type 5
An inherited blood condition in which red blood cells are destroyed faster than they are made, causing long-term anemia.
Understanding Hereditary spherocytosis type 5
Red blood cells are destroyed faster than they can be made, and the immune system is not the cause. Some babies have yellowish skin and eyes soon after birth. In others, symptoms begin later in childhood after a viral infection causes a rapid drop in red blood cells. It can also cause an enlarged spleen and gallstones.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Anemia from red blood cell breakdown
- Yellowing of skin and eyes (jaundice)
- Enlarged spleen
- More young red blood cells (reticulocytosis)
- Gallstones
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 it is caused by changes in the EPB42 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: epb42 hereditary spherocytosis; epb42-related hereditary spherocytosis; epb42-related spherocytosis; hereditary spherocytosis 5; hereditary spherocytosis caused by mutation in epb42; hs5
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hereditary spherocytosis type 5.
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