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Online Since 1996

 
Dr. Ernest Beutler
(Sep. 30, 1928 – Oct. 5, 2008)

Dr. Ernest Beutler, who first identified the G6PD enzyme deficiency in 1953, the man who was most instrumental in establishing this Web site back in 1996, a giant among scientists and a most generous, gracious person, passed away on October 5.
See obituaries in The Los Angeles Times and The New York Times. A more detailed biography on Wikipedia. To read some of his articles, turn to our list of Research Papers.

NEONATES - G6PD DEFICIENCY ASSOCIATION

Dear parents,

Welcome to the Web site dedicated to G6PD Deficiency and Favism.

Like many of us before you, you probably have been told recently that your newborn baby suffers from G6PD deficiency. And like all of us you are naturally very concerned. Let us, then, allay your fears immediately by saying that your baby can have a perfectly normal life, while avoiding certain drugs and foodstuff .

G6PD deficiency is a hereditary abnormality and therefore cannot be 'cured.'

This abnormality in the activity of an erythrocyte (red blood cell) enzyme, glucose-6-phosphate dehydrogenase (G6PD), has hundreds of genetic variants, and enzyme levels vary from person to person. As a result, each G6PD deficient person reacts differently to the various drugs and foodstuffs on our "unsafe" list.

To learn more about this condition, please read first the article "What is G6PD Deficiency?" , where we explain what you should do in case of a hemolytic crisis while waiting for your baby's pediatrician.

Indeed, an intake of any of the dangerous drugs or foodstuff might lead to hemolytic crises in a matter of hours, putting your baby's life at risk.

But there are other aspects you should watch out for besides a hemolytic crisis.

Pay closer attention to your baby's condition if jaundice has been detected. Jaundice is common among new-borns, but if it does not go away in a matter of days, you should insist on measuring birilubin levels (and don't let anyone convince you it is an altogether normal condition that will go way within a few more days or weeks). Remember, the early days of life are a most delicate period for your baby. We'd like to draw your attention to what Ernest Beutler, M.D. (a leading expert in this field) has to say about neonatal icterus (jaundice):

"Icterus neonatorum with no evidence of immunologic incompatibility occurs in some infants with G6PD deficiency. The jaundice may be quite severe and, if untreated, may result in kernicterus. Thus G6PD deficiency is a preventable cause of mental retardation, and this aspect of the disorder has considerable public health significance."

In that context, you should read Glucose-6-Phosphate Dehydrogenase-Deficient Neonates: A Potential Cause for Concern in North America [published on the Pediatrics publication site] - by Michael Kaplan, MB, ChB and Cathy Hammerman, MD (discussing neonatal jaundice and possible resurgence of kernicterus among G6PD deficient subjects). A must read for parents of jaundiced neonates ; and Early Recognition of Neonatal Jaundice and Kernicterus [published on the pickonline.org site] - by Laura Stokowski, RN, MS.

Notwithstanding the above, we certainly do not aim to alarm you. Just the opposite. We wish to offer you a source of information about G6PD deficiency so that you are better prepared to raise your child to run a healthy and normal life.




The Association is affiliated with UNIAMO, Italian Federation for Rare Diseases, which in turn is member of EURORDIS, European Organization for Rare Diseases.

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