What is g6pdd?

Glucose-6-phosphate dehydrogenase (g6pd) Deficiency

The following information copied directly from No Hands but Ours  

Click here for comprehensive .pdf from additional resource

Overview

G6PD deficiency is an X-linked inherited blood disorder in which the body doesn’t have enough of the enzyme G6PD. This means that if a boy (XY) receives an X chromosome that is deficient, he will have a significant G6PD deficiency. A girl (XX) can receive either one deficient X chromosome, or two. This means that girls can have more varied levels of G6PD deficiency, from non-symptomatic to highly deficient. Even some girls who are carriers (one good X and one bad X) have been found to be symptomatic. Some females are more highly deficient than expected, because they have one deficient X chromosome and a second mutated and/or damaged X chromosome.

• This is the most common inherited enzyme defect in the world.
• With the right precautions, a child with G6PD deficiency can lead a healthy and active life.
• G6PD deficiency is common in Guangdong, Taiwan, Guangxi and other parts of South China. It is found in the Han, Zhuang, Li and Miao ethnic groups, as well as others.
• In China many of those affected with G6PD deficiency have less than 10% enzyme activity, resulting in a high degree of sensitivity to oxidizing substances.
• Some of the G6PD variants result in chronic hemolytic anemia (CNSHA).
• G6PD deficiency is thought to be a defense against Malaria and occurs in the same regions as the Thalassemias. A person can have both Thalassemia, major or trait and G6PD deficiency.
• Tests for G6pd deficiency in boys are easily administered and reliable.
• Tests for G6pd deficiency in girls are difficult, expensive and often require genetic analysis. However in China new more reliable, less expensive tests are being developed to detect G6PD deficiency in girls.
• G6PD deficiency in women has been found to become more acute as they age.
• Those who are G6PD deficient are likely to have an increased risk of diabetes, hypertension, sepsis and its complications and cataracts.

G6PD is required to neutralize oxidative substances in the body and metabolize carbohydrates properly. Without enough G6PD, red blood cells begin to break down quickly. G6PD is important for the life of all cells, cell growth and development. G6pd deficiency is not curable at this time. The only treatment is avoidance of trigger substances and hospitalization and blood transfusions in cases of extreme hemolysis (breakdown of red blood cells). Extreme haemolytic episodes can result in renal failure and/or death.

Things to avoid

Each person, and each G6PD variant (approximately 400) can react differently to identified trigger substances. There are however, accepted lists of substances that may need to be avoided.

These include:

1. NSAIDS (Asprin, Ibuprophen)
2. Tylenol
3. Quinolones
4. Drugs metabolized through the liver or known to cause blood or liver related problems or hemolysis
5. Sulfa drugs
6. Petrochemically derived substances (This is a long list and gets longer every year. Many artificial foods, dyes and vitamins are included in this list.)
7. Moth Balls and anything containing naphthalene.
8. Methylene and Toluidine blue
9. Legumes and their derivatives (for example: soy, peanut, beans, peas, licorice, food thickeners and gums, MSG)
10. Other substances including blueberries, blue food coloring, tonic water/quinine, red wine, sulfites, mothballs, and petroleum derived substances.
11. Illness / fever can also trigger G6PD symptoms.

Some G6PD deficient people try to reduce oxidative stress by ingesting antioxidants (w/o blueberries or blue food coloring) and taking folic acid, in addition to avoiding trigger substances.

Symptoms

Symptoms can be found in both those who have been diagnosed (boys and some girls) and those who have not yet been diagnosed (esp. in girls from South China / SE Asia). Symptoms generally occur within three days of exposure to triggering substance. Once the triggering substance is removed or the illness resolved, the symptoms generally improve over a period of weeks. Mild symptoms can be treated at home, more severe symptoms may require hospitalization.

• paleness (in darker-skinned children paleness is sometimes best seen in the mouth, especially on the lips or tongue)
• extreme tiredness
• rapid heartbeat
• rapid breathing or shortness of breath
• an enlarged spleen
• dark, tea-colored urine
• abdominal / back pain
• bruising
• fever
• weakness
• dizziness
• confusion

Classes of G6PD Enzyme Variants:

---

Class	Level of deficiency	Enzyme activity	Prevalence
I	Severe	Chronic nonspherocytic hemolytic anemia in the presence of normal erythrocyte function	Uncommon; occurs across populations
II	Severe	Less than 10 percent of normal	Varies; more common in Asian and Mediterranean populations
III	Moderate	10 to 60 percent of normal	10 percent of black males in the United States
IV	Mild to none	60 to 150 percent of normal	Rare
V	None	Greater than 150 percent of normal	Rare

---

Adapted from AAFP.org

Resources
• www.g6pddeficiency.org
• www.rialto.com
• www.g6pd.org
• www.ghr.nlm.nih.gov
• www.nlm.nih.gov/medlineplus/ency/article/000528.htm
• memo.cgu.edu.tw/cgmj/2809/280902.pdf
• www.hkcpath.org/docs/Topical%20Update/Topical%20Update%20V2I1.pdf
• www.aafp.org/afp/2005/1001/p1277.html
• www.bioinf.org.uk/g6pd/
• Hirono A, Fujii H, Miwa S. Identification of two novel deletion mutations in glucose-6-phosphate dehydrogenase gene causing hemolytic anemia. Blood 1995;85:1118-21.
• Mason PJ, Sonati MF, MacDonald D, et al. New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia. Blood 1995;85:1377-80.

I'm sorry? Can you repeat that? g- what?

Most of you don't know the details of something I alluded to after our orphanage visit.  Little Buddy's birth note listed the phrase "Diagnosis g6pd".  I asked our guide what that meant and he said he thought it was his airway condition.  Considering I know nothing about Chinese medicine and the fact that it ended in PD (in my nurse brain pd = Pulmonary Disorder) I accepted what he said as truth.  Unfortunately, that night I consulted Dr. Google and discovered he was wrong.  g6pdd is an acronym for a genetic disorder called Glucose-6-phosphate dehydrogenase deficiency.  It is a genetic enzyme deficiency which can cause hemolytic anemic (a blood disorder).  At the time we had no idea if he truly had this condition but if so it might explain a lot.   

Fast forward...

Friday, August 3, 2012... 

We had hope the birth note listing g6pdd wasn't accurate.  The test had to be sent to a specialized lab so the results came back this afternoon.  Unfortunately, he does, indeed, have g6pd deficiency.  According to Dr. B his level is very low so off to hematology we go.  It was already on our list of consults because of other abnormal lab work but now it moves quickly up the list.

Obviously the Lord knew all of this but now we have to try to sort it all out.  In the big picture it could be worse but it would have been nice to have this information beforehand.  We gave him medication he should not have taken (which may or may not have caused his seizures).  We gave him food and milk he can't eat or drink.  WHY DID THE ORPHANAGE KEEP THIS FROM US????  They knew the information but chose to withhold the information from us.   

It is not very common here in the US but is the most common inherited enzyme deficiency worldwide.  With lots of research I am finding the main change will be the way we eat.  Removing MANY foods from our diet.  Limiting certain vitamins and minerals because he can't process them.  A LONG list of medications he can never ingest.  All of these things can be triggers that send him into a hemolytic crisis.  We do not feel it is fair to make him eat completely different than we do nor am I going to be his short order cook.  Thus the reason this will need to be a change for our entire family.  Quite frankly, we are OVERWHELMED but we will figure it out one day at a time.

The Chief and I?  We're just sad... angry... humbled... frustrated... overwhelmed... yet thankful.  I honestly don't know where to begin.  I know once we figure it out it won't be so overwhelming but right now that's where we are.  Yes, he will live a long life as long as we are diligent about avoiding/removing the triggers from his body.  He will require diligent eyes to keep him safe.  He may require hospitalizations and blood transfusions along the way.  In the big picture this feels like big stuff but eventually it will be small potatoes.  We know that.   Yes, we are overwhelmed but we are still thankful we said yes.  We are even more thankful we said yes on those very scary days in China.  Now more than ever I know he NEEDED to get out of there and receive proper care.  Now he has a Mommy and Daddy who will fight for him instead of ignore what he needs.  He didn't have that three weeks ago.  I guess we'll just become his very granola Mommy and Daddy who are nazi-ish about everything he puts in his mouth.  I guess it could be worst, right?

To those of you who found out this information via Facebook... I am SO sorry!  We would have much rather you heard it from us but there's nothing we can do about it now.  There are always multiple sides to every story.  One you tell your inner circle while you process an enormous life change and one you present to the world after you figure it all out.  Then there's this thing called Facebook that can, unbeknownst to you, tell the world before you are ready.  As many of my friends in real life already know, I posted in what I thought was a CLOSED group about something I wasn't ready to tell the world.  However, I was actually posting in an OPEN group.  8/  So, FB decided it was OK to share my posts in the newsfeeds of 480+ of my "closest" FB friends.  Lovely...

Fast forward until today...

Friday, August 17, 2012... 

Today we saw the hematologist.  We are now awaiting insurance approval before we can determine Little Buddy's g6pdd variant.  Once we know the variant we can learn the characteristics of how it will most likely effect him and to what severity.  I honestly don't feel we know much more than we did yesterday.  I asked many questions.  Some she knew the answers to and some she did not.  We have discovered so much discrepancy between physicians about this disorder we don't know what to believe.  Over the next few weeks we will be searching for more information.  Pray for discernment as we make changes for our Little Buddy.  All the kids are taking it in stride...thankfully!  Now Momma and Daddy need to adjust to the new normal...