What You Should Know About G6PD

What You Should Know About G6PD

My son was all of 6 weeks old when I got the call from his pediatrician with the results of his neonatal tests.  I was a bit surprised to get such a call - I hadn't received one after my daughter was born.  Two seconds in, the doctor told me that my new baby had a condition called G6PD deficiency.  

My heart dropped into my stomach. I couldn't do an instant internet search because my computer was all the way on the other side of the room and my baby was quietly nursing. I looked down at his sweet face and felt the tears rise.

I had never heard of G6PD deficiency before.  I didn't remember it being included in the genetic screening when I was pregnant and I didn't (think) that I knew anyone with the condition.  I was instantly freaked out.

Turns out the pediatrician didn't know much about  it either except its full name -  Glucose-6-phosphate dehydrogenase deficiency - and that only the only states where new babies are tested for it is in Pennsylvania and D.C.

Thank God I insisted that we trek from our home in Northern Virginia to D.C. to deliver both children.

We got our little guy into Children's National Hospital for additional tests and some much needed education from the Blood Disorders (Hematology) clinic.  And what I learned both relieved and angered me.

G6PD deficiency is an X-linked recessive genetic "mutation" that causes red cell death (hemolysis) and jaundice.  The reaction is triggered when someone with the deficiency is exposed to certain foods, chemicals, and illnesses.  What kind of triggers?  Try fava beans, blue food coloring, moth balls, menthol, NSAIDs, sulphur, and nitrates, just to name a few.  There is no treatment for G6PD deficiency except to avoid triggers.  The level of deficiency varies - from mild to severe.  Folks with mild deficiency may suffer from some anemia and jaundice when triggered, while for folks with severe deficiency, exposure to a trigger can be fatal.  I was relieved to learn that my son has only a mild deficiency.  Then, the anger.

Epidemiologists believe that G6PD deficiency affects up to 10% of African American males - yet neonatal screening for African Americans is not recommended by the wider medical establishment.  If only the mother carries the genetic mutation and gives birth to a son, he may have the deficiency.  If both parents carry the mutation, then the sex of the child does not matter.  And like I said earlier, the only states who screen are Pennsylvania and D.C.

What is particularly troubling is that most parents only learn that their child has GSPD deficiency if the child becomes ill and is hospitalized in crisis.  No kidding.  And the deficiency is prevalent in Africa, the Middle East, and parts of Southeast Asia.  Given our immigrant population, I'm pretty sure that the rate of the condition is more than 10%.  Frame of reference?  The Cystic Fibrosis (CF) mutation is prevalent in about 4% of folks of European descent, and 1.5% in African Americans.  Now, CF is different kind of disorder - you literally suffer the symptoms for your entire life, so I understand why it gets attention.  But if you have a severe G6PD deficiency it'd take just one bowl of fava beans to kill you.  Literally.   

Given that G6PD seems (at least at this point) pretty easy to manage, and its prevalence, why aren't babies screened in more states? How many little kids are downing "purple drink" and being rubbed with a menthol ointment when under the weather? Or eating dried fruit treated with sulphur or wearing a sweater stored with moth balls?

There just isn't much information out there.  A couple of sites have useful information, but actual medical information available to the public is thin.  

So, why am I writing about this on a clean eating blog?  Because one of the best mitigations for G6PD deficiency is to eat a clean, wholesome diet, which includes eliminating additives and preservatives.  Certain foods are also encouraged, like red meats, because they boost iron in the blood. (Just like cast iron cooking!)  My son is lucky that he has a mild deficiency - he can eat naturally blue foods like blueberries and purple potatoes, and most legumes.  But NO ONE with G6PD can eat fava beans.

So, in our house, we've cut out the nitrates, artificial colors, sulphured dried foods, and a host of other no-nos.  I've replaced the moth sachets with cedar planks and chips, and "mentholated" cold remedies are avoided.  

I applaud the folks at G6PDdeficiency.org  and G6PD.org for their work.  These two organizations have extensive information on G6PD and are strong advocates for people with the disorder.  I also have to thank Children's National Medical Center in D.C. for their support and care.

And if you find yourself particularly sleepy or yellowed eyes after taking certain medications or coloring your hair with Henna, you should consider getting tested.