Living with Hemolytic anemia due to glucophosphate isomerase deficiency
An inherited blood condition in which red blood cells break down early, from mild to severe anemia.
Understanding Hemolytic anemia due to glucophosphate isomerase deficiency
It ranges from mild to severe and begins in the newborn period or infancy. It can cause pale skin, yellowing of the skin and eyes (jaundice), tiredness, and fast heartbeat. People may also have an enlarged spleen and gallstones. Infections can trigger episodes of worse breakdown (hemolytic crises). A small number also have nervous system problems.
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
- Enlarged liver
- 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
Specialists who may be involved include blood and bone marrow specialists and genetic specialists.
- 3Consider genetic testing
Changes in GPI are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists)
- 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
It is caused by changes in the GPI gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: anemia, congenital, nonspherocytic hemolytic, 4; anemia, congenital, nonspherocytic hemolytic, 4, glucose phosphate isomerase deficient; cnsha4; glucosephosphate isomerase deficiency; hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; hereditary nonspherocytic hemolytic anemia (hnsha) due to glucose phosphate isomerase deficiency
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 Hemolytic anemia due to glucophosphate isomerase deficiency.
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