For many families, understanding a genetic condition begins with a diagnosis. For the G6PD Deficiency Foundation, the goal is to make sure families have access to that information before a diagnosis becomes a medical emergency.
In February 2027, the G6PD Deficiency Foundation will host an educational webinar focused specifically on heterozygous females with G6PD deficiency. The webinar will be open to anyone interested in learning more about the condition, including individuals living with G6PD deficiency, families, healthcare professionals, and members of the wider community.
G6PD deficiency is a hereditary enzyme deficiency that affects red blood cells and is one of the most common genetic enzyme deficiencies worldwide. The condition can vary significantly from person to person, making awareness and appropriate testing an important part of understanding individual risk.
For Harris, founder and president of the G6PD Deficiency Foundation, that awareness is at the heart of the organization’s mission.
“We look forward to a day when not one child is born with undiagnosed G6PD deficiency,” Harris said.
One of the areas the upcoming webinar will explore is why G6PD deficiency can be particularly complicated to identify in females who carry a G6PD gene variant on one of their two X chromosomes.
Females have two X chromosomes, and in each cell, one X chromosome is generally active while the other is inactive. This creates a genetic mosaic in which different red blood cells can have different levels of G6PD activity.
As a result, a heterozygous female may have G6PD activity that ranges from near normal to levels associated with deficiency. This variation can make the condition more difficult to identify through routine testing alone.
The Foundation believes that greater understanding of this biological difference is important for both families and healthcare professionals. A person who carries one G6PD variant should not necessarily assume that she is unaffected simply because an initial test does not indicate obvious deficiency.
The upcoming webinar will provide an opportunity to explore these issues in greater detail, including inheritance, testing, and the factors that can influence G6PD activity.
The G6PD Deficiency Foundation is a 501(c)(3) nonprofit organization dedicated to increasing awareness, education, and screening for G6PD deficiency.
The organization’s work grew from Harris’s personal experience with her grandson, Brody, whose newborn health crisis was associated with undiagnosed G6PD deficiency. That experience helped reinforce Harris’s belief that families and healthcare professionals need better access to information about the condition.
Since then, the Foundation has developed educational resources covering subjects including inheritance, screening, newborn jaundice, and living with G6PD deficiency.
Its broader goal is straightforward: identify the condition earlier so individuals and families can understand it and take appropriate precautions.
“We are a 501(c)(3) organization that advocates for awareness, education and screening for G6PD deficiency,” Harris said. “With knowledge of having the condition, people can live healthy, normal lives, but tragedy is possible for those who are undiagnosed.”
Newborn screening is another major focus of the Foundation’s advocacy efforts.
Harris believes newborns should be screened for G6PD deficiency before leaving the hospital. However, universal newborn screening for G6PD deficiency is not currently standard across the United States.
The Foundation’s educational materials discuss quantitative testing as one approach to measuring G6PD activity. Understanding the limitations of testing is particularly relevant when evaluating females who may be heterozygous, because enzyme activity can vary depending on the proportion of red blood cells affected by the genetic variant.
For the Foundation, screening is not simply about identifying a diagnosis. It is about giving families information that can help them make informed decisions about healthcare throughout a person’s life.
The February 2027 webinar represents another step in the Foundation’s effort to make information about G6PD deficiency more accessible.
By focusing specifically on heterozygous females, the event will address an area that can be overlooked when conversations about G6PD deficiency center primarily on individuals with more obvious enzyme deficiency.
The webinar is open to anyone who wants to learn more about G6PD deficiency and the challenges associated with identifying it in heterozygous females.
For the G6PD Deficiency Foundation, the larger objective extends beyond a single webinar. The organization hopes that greater awareness will encourage more people to ask questions, seek appropriate testing, and better understand the condition.
Ultimately, Harris says the goal is a future in which families do not have to discover G6PD deficiency only after something goes wrong.
