anemia, nonspherocytic hemolytic, due to G6PD deficiency
Findings
No curated finding names anemia, nonspherocytic hemolytic, due to G6PD deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any nonspherocytic hemolytic anemia in which the cause of the disease is a variation in the G6PD gene resulting in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous or homozygous G6PD variants associated with chronic nonspherocytic hemolytic anemia (CNSHA) will clinically manifest CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for severe neonatal jaundice and acute exacerbation of their chronic hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.
Definition from the Mondo Disease Ontology (MONDO:0010480), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Congenital onset · Infantile onset · Middle age onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating glucose-6-phosphate dehydrogenase activityHPOHP:0410179
- 20 of 20 reported patients
- Fava bean-induced hemolytic anemiaHPOHP:0004814
- 16 of 16 reported patients
- JaundiceHPOHP:0000952
- 1 of 1 reported patient
- Prolonged neonatal jaundiceHPOHP:0006579
- 19 of 19 reported patients
- SplenomegalyHPOHP:0001744
- 17 of 20 reported patients
- Heinz bodiesHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- G6PDHGNC:4057
- Definitive · Ambry Genetics · X-linked · 2018
- Definitive · ClinGen · X-linked · 2023
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
8 names
Resolves to: anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Also called
- anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficientClass I G6PD deficiencyclass I glucose-6-phosphate dehydrogenase deficiencyhemolytic anaemia due to G6PD deficiencyhemolytic anemia due to G6PD deficiencyhemolytic anemia, G6PD deficient (favism), X-linked dominantsevere hemolytic anaemia due to G6PD deficiencysevere hemolytic anemia due to G6PD deficiency