From the Guidelines
Screening for G6PD deficiency is recommended for individuals at high risk of having the condition, particularly before administering medications known to trigger hemolytic anemia, as stated in the 2014 guidelines by the HIV Medicine Association of the Infectious Diseases Society of America 1. Those who should be screened include people of African, Mediterranean, Middle Eastern, or Southeast Asian descent, as these populations have higher prevalence rates of the genetic mutation.
- Screening is also indicated for patients with a family history of G6PD deficiency or unexplained hemolytic anemia.
- Additionally, individuals who will be taking medications known to precipitate hemolysis in G6PD-deficient patients should be screened before starting treatment; these medications include antimalarials (primaquine, chloroquine), antibiotics (sulfonamides, nitrofurantoin, ciprofloxacin), rasburicase, and certain analgesics like aspirin at high doses.
- Newborns with jaundice of unknown cause, especially those from high-risk ethnic groups, may also benefit from screening, as G6PD deficiency can occur in 11% to 13% of African Americans 1. The screening is important because G6PD deficiency reduces the body's ability to protect red blood cells from oxidative stress, which can lead to hemolysis when triggered by certain medications, foods (fava beans), or infections, and early identification allows for appropriate medication selection and preventive measures to avoid potentially life-threatening hemolytic crises, as noted in the guidelines for the management of pediatric and adult tumor lysis syndrome 1. It is also crucial to consider the risk of G6PD deficiency in patients of African American, Mediterranean, or Southeast Asian descent before administering rasburicase, as it is contraindicated in patients with a known G6PD deficiency 1. In the context of managing hyperbilirubinemia in newborns, screening for G6PD deficiency is essential, especially in those with significant hyperbilirubinemia, as some may develop a sudden increase in total serum bilirubin (TSB) levels 1. Overall, the most recent and highest quality evidence supports the recommendation for screening G6PD deficiency in high-risk individuals, particularly before starting therapy with an oxidant drug, as stated in the 2014 guidelines 1.
From the FDA Drug Label
WARNINGS Hemolytic anemia and G6PD deficiency Due to the risk of hemolytic anemia in patients with G6PD deficiency, G6PD testing has to be performed before using primaquine. Risk factors for G6PD deficiency or favism must be assessed Areas of high prevalence of G6PD deficiency are Africa, Southern Europe, Mediterranean region, Middle East, South-East Asia, and Oceania People from these regions have a greater tendency to develop hemolytic anemia (due to a congenital deficiency of erythrocytic G6PD) while receiving primaquine and related drugs.
The following individuals should be screened for G6PD deficiency:
- Patients before using primaquine
- Individuals from areas of high prevalence of G6PD deficiency, including:
- Africa
- Southern Europe
- Mediterranean region
- Middle East
- South-East Asia
- Oceania
- Individuals with a family or personal history of favism 2
From the Research
Screening for G6PD Deficiency
The following individuals should be screened for G6PD deficiency:
- Newborns with a family history, ethnicity, or geographic origin that suggests risk for the condition 3
- Jaundiced newborns who are receiving phototherapy 3
- Infants whose response to phototherapy is poor 3
- Individuals from ethnic groups with a high incidence of G6PD deficiency, such as those from the Middle East and Africa 4
- Patients who will be exposed to certain environmental factors, such as infection, medications, or foods that can trigger hemolysis in individuals with G6PD deficiency 4, 5
- Individuals who will be given drugs that can trigger acute haemolytic anaemia in subjects with G6PD deficiency, such as primaquine 5
High-Risk Populations
Certain populations are at a higher risk for G6PD deficiency, including:
- Individuals from areas where G6PD deficiency is common 5
- Individuals with a history of favism or hemolysis 4
- Individuals who have experienced neonatal jaundice or hemolysis 4, 6
Benefits of Early Screening
Early screening for G6PD deficiency can help identify at-risk individuals and prevent severe hyperbilirubinemia, acute bilirubin encephalopathy, and kernicterus 7