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GENATLAS PHENOTYPE

last update : 14-05-2020

Symbol	G6PDD
Location	Xq28
Name	G6PD deficiency
Corresponding gene	G6PD
Main clinical features	deficiency of G6PD, in various forms, is the basis of favism, primaquine sensitivity and some other drug-sensitive hemolytic anemias, anemia and jaundice in the newborn, and chronic nonspherocytic hemolytic anemia high frequency in Africans, Mediterraneans and Asians, heterozygote advantage viz-a-viz malaria 5 classes according to the level of enzyme activity Class 1: Enzyme deficiency with chronic nonspherocytic hemolytic anemia Class 2: Severe enzyme deficiency (less than 10%) Class 3: Moderate to mild enzyme deficiency (10-60%) Class 4: Very mild or no enzyme deficiency (60%) Class 5: Increased enzyme activity
Genetic determination	sex linked
Prevalence	Glucose-6-phosphate deficiency is the most prevalent enzyme deficiency, with an estimated 400 million people affected worldwide
Function/system disorder	hematology
Type	disease

Gene product

Name	glucose-6-phosphate dehydrogenase (G6PD)

Remark(s)

. women heterozygous for G6PD mutations exhibit variation in the loss of enzyme activity with preferential X-inactivation of the G6PD wild-type allele determined in heterozygotes (PMID: 24958328)) restoration of enzymatic activity in G6PD-deficient nucleated cells is feasible through modulation of G6PD transcription (PMID: 24805191))

Genotype/Phenotype correlations

this inherited deficiency causes neonatal hyperbilirubinemia and chronic hemolytic anemia. Although most affected individuals are asymptomatic, exposure to oxidative stressors such as certain drugs or infection, can elicit acute hemolysis.