ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 4
OrphanetNr:
OMIM Id: 300908
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0006579) Prolonged neonatal jaundice 25 / 7739
2
(HPO:0001923) Reticulocytosis 28 / 7739
3
(HPO:0004814) Fava bean-induced hemolytic anemia 2 / 7739
4
(HPO:0008282) Unconjugated hyperbilirubinemia 9 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) G6PD deficiency is the most common genetic cause of chronic and drug-, food-, or infection-induced hemolytic anemia. G6PD catalyzes the first reaction in the pentose phosphate pathway, which is the only NADPH-generation process in mature red cells; therefore, ...
Clinical Description OMIM In primiquine-sensitive patients with hemolytic anemia, Carson et al. (1956) demonstrated an abnormality in the direct oxidation of glucose in red blood cells and deficiency of glucose-6-phosphate dehydrogenase.

Cooper et al. (1972) and Gray et al. ...

Genotype-Phenotype Correlations OMIM Miwa and Fujii (1996) listed the mutations responsible for about 78 G6PD variants. Molecular studies disclosed that most of the class 1 G6PD variants associated with chronic hemolysis have the mutations surrounding either the substrate- or NADP-binding site. ...
Molecular genetics OMIM Variants of G6PD deficiency have been divided into 5 classes according to the level of enzyme activity: class 1--severe enzyme deficiency associated with chronic nonspherocytic hemolytic anemia; class 2--severe enzyme deficiency (less than 10%) associated with acute hemolytic ...
Population genetics OMIM Miwa and Fujii (1996) stated that an estimated 400 million people worldwide have G6PD deficiency associated with chronic hemolytic anemia and/or drug- or infection-induced acute hemolytic attacks.

The highest prevalence of G6PD deficiency is found in ...