Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a hereditary disorder in which red blood cells break down prematurely. G6PD deficiency is caused by deficiency of the enzyme glucose-6-phosphate dehydrogenase. The most common complication of G6PD deficiency is hemolytic anemia, a situation where blood cells are destroyed faster than the body can replace them. Hemolytic anemia is usually triggered by illness and certain medications or foods. During these episodes affected individuals may feel fatigued, experience back pain, shortness of breath, a rapid heart rate and develop jaundice. These symptoms generally resolve within a few weeks. Although G6PD can cause severe jaundice in newborns, many affected individuals remain symptom-free their whole life. There is no cure for G6PD deficiency, however by avoiding or careful surveillance of situations that trigger hemolytic anemia, affected individuals can lead a healthy and active life. G6PD deficiency is caused by pathogenic variants in the G6PD gene.

G6PD deficiency is inherited in an X-linked recessive manner. This type of inheritance requires the presence of one copy of a pathogenic variant in the gene located on the X-chromosome for males to be affected. When the pathogenic variant is inherited from the unaffected carrier mother, the male child will be affected. There is a 50% chance that a baby will inherit the pathogenic variant from the mother; females who inherit the pathogenic variant will be carriers, males who inherit the pathogenic variant will be affected.

There are generally no signs or symptoms associated with being a carrier for G6PD deficiency. However, the risk to have a child affected with G6PD deficiency is increased. Testing of reproductive partners is recommended for carriers of G6PD deficiency.

An estimated 400 million people worldwide have glucose-6-phosphate dehydrogenase deficiency. It occurs more frequently in males of African, Asian, and Mediterranean descent.

Genetics Home Reference: Glucose-6-phosphate dehydrogenase deficiency (http://ghr.nlm.nih.gov/)
PubMed Health: Glucose-6-phosphate dehydrogenase deficiency (http://www.ncbi.nlm.nih.gov/pubmedhealth/)

OMIM [G6PD: 305900] (http://www.ncbi.nlm.nih.gov/omim)

• Full gene sequencing