G6PD deficiency Newborn Screening
Who, When and How to Test Newborns for G6PD Deficiency?
The g6pd Deficiency Foundation recognizes that various limitations do not currently allow for universal testing to be undertaken. With this noted, the following are the recommendations for who, when and how to test for G6PD deficiency (G6PDd)
Perform a quantitative test to determine if the baby is G6PD deficient.
Use of quantitative analyses will identify the level of G6PD activity, and thus will aid to identify those females heterozygous for the deficiency. Qualitative testing will not identify those who are heterozygous for the deficiency, nor will it provide the level of deficiency.
Perform G6PDd testing prior to discharge from the birthing facility.
Extreme hyperbilirubinemia in G6PD deficient newborns can occur soon after discharge and before the infant’s next well-being checkup with a doctor. If the condition is known prior to discharge, specifically within 24-72 hours following birth, the high-risk infant can be closely monitored and treated appropriately to avoid possible health complication from toxic bilirubin. This protocol also allows the family to become educated about this enzyme deficiency prior to G6PDd newborn going home.
Who should be tested?
- Infants presenting with hemolytic anemia
- Infants presenting with hemolytic jaundice
- Infants presenting with early onset increasing neonatal jaundice persisting beyond the first week of life (bilirubin level greater than the 40th percentile for age in hours)
- Infants readmitted to the hospital for jaundice following discharge
- Infants with a familial, racial or ethnic risk of G6PD deficiency (those with African, Asian, Mediterranean or Middle Eastern ancestry)
- Consider testing infant with an unknown ethnic background due to racial diversity in the United States
It remains the goal of the g6pd Deficiency Foundation to have all newborns screened for G6PD deficiency prior to discharge.
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How to bring G6PD deficiency Newborn screening to every state
G6PD Deficiency Foundation
The g6pd Deficiency Foundation, Inc.’s purpose is to provide a website that has effective and enriching G6PD Deficiency information based on valid research and reported cases. Through the implementation of educational seminars & literature to the general public and medical community, we hope to encourage G6PD deficient individuals to live a healthy life.
Get educated on the basics of this enzyme deficiency, the populations it affects, as well as the statistics behind it all.
What methods are available, who should be screened, and what are the challenges with each of the available options for screening.
Brody’s Battle happened in the first ten days of his life and nearly ended it, leaving him with terrible brain damage caused by a condition called Kernicterus. Our foundation was started to spare other newborns such life-threatening events by raising awareness of how undiagnosed G6PD deficiency can cause Jaundice. A Kernicterus event can occur if neonatal Jaundice is not properly managed.
This story does not have to happen to another family...
We need to hear from those who are diagnosed with G6PD deficiency. Your participation will help prioritize the efforts of the Foundation. Thank you.
The Foundation wants to provide the most up to date information on G6PDd and needs your support. You can help G6PD Awareness by taking action.
Time For Change
It is very difficult for one to lead a normal healthy life when they do not know they have G6PD Deficiency. Your support can allow us to continue educating everyone about G6PD Deficiency. It’s time for this enzyme deficiency to be known in every household.