Living with Anemia, nonspherocytic hemolytic, due to G6PD deficiency
A genetic condition in which red blood cells break down early, often after infections, certain drugs, or fava beans.
Understanding Anemia, nonspherocytic hemolytic, due to G6PD deficiency
A defect in an enzyme called glucose-6-phosphate dehydrogenase causes red blood cells to break down early, which is called hemolysis. The most common problem is hemolytic anemia, when cells are destroyed faster than the body can replace them. It is most often triggered by infections or certain drugs, such as some antibiotics and malaria medicines. It can also follow eating fava beans or breathing in fava plant pollen (favism).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Pale skin
- Yellowing of the skin and eyes (jaundice)
- Dark urine
- Tiredness and shortness of breath
- Fast heart rate
- Belly pain and fever
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 G6PD 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 g6pd Deficiency 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
Changes in the G6PD gene cause this condition, and it is inherited in an X-linked way.
Also known as: anemia, congenital, nonspherocytic hemolytic, 1; anemia, congenital, nonspherocytic hemolytic, 1, g6pd deficient; class i g6pd deficiency; class i glucose-6-phosphate dehydrogenase deficiency; cnsha1; favism, susceptibility to
Patient organizations
- g6pd Deficiency FoundationAnemia, nonspherocytic hemolytic, due to G6PD deficiency · United States
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