Living with 6-phosphogluconate dehydrogenase deficiency
A rare inherited blood condition that causes mild, long-term anemia with occasional yellowing of the skin.
Understanding 6-phosphogluconate dehydrogenase deficiency
It is a type of chronic hemolytic anemia, where red blood cells break down faster than normal. The anemia is well compensated, which means the body copes. There can also be short periods of faster red cell breakdown with jaundice.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes anemia and short periods of jaundice.
- Long-term mild anemia
- Short periods of red cell breakdown
- Yellowing of skin and eyes (jaundice)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
GARD says changes in genes (also called variants) cause this condition. The summary describes low enzyme activity in red blood cells.
Also known as: 6pgd deficiency; pgdd
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 6-phosphogluconate dehydrogenase deficiency.
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