Women with G6PD Deficiency

Women with G6PD Deficiency are the most affected by myths and generally do not know they have G6PDD until a child is born and found to be G6PDD. The reason for this is that most G6PDD tests return not deficient for women with one affected X chromosome. Let’s begin this discussion by debunking a few myths.

More men are G6PDD than women

First of all, this is statistically improbable, since men can ONLY inherit G6PDD from their mothers and women can get it from either or both parents. The actual statistics show that slightly more women than men have G6PDD5.

Women who have G6PDD are asymptomatic

This was proven wrong by two different research teams working independently. Here’s how it works.

Women who have G6PDD come in two categories. Either with one or both X chromosomes affected. If both are affected, they are considered fully deficient and have symptoms like men. The other group with only one affected X chromosome (sometimes referred to as partially deficient or erroneously as carriers) vary in severity from mild to severe based on something called Lyonization30.

Lyonization

Lyonization is a process of selecting which X chromosome will be deactivated in a cell. It is a random process and happens early in an embryo’s life. Each cell chooses an X chromosome to deactivate and passes this choice to its progeny. How many choose to deactivate the X chromosome affected by G6PDD determines how deficient the woman will be.

Let’s look at it in a simpler way. If half of the red blood cells have the good X chromosome deactivated, then half of her red blood cells will be fully deficient and half will be unaffected. When she comes into contact with a trigger, half of the blood cells will react and half will not. This ratio is completely random and can vary from only a small portion of red blood cells affected to most of them affected31. The resulting hemolysis from triggers will be small to large respectively.

So, women are affected by triggers, but how much depends on the results of Lyonization.

Do women need to avoid triggers?

Yes. They should avoid triggers just like men. Even though the resulting hemolysis is, as a rule, less than that of a fully deficient woman or a man, any hemolysis over time can lead to other health problems. Lower levels of hemolysis can also cause other illnesses to be more severe. Unfortunately, lower levels of hemolysis are difficult to detect, which contributes to the myth that women are unaffected.


Comments

Women with G6PD Deficiency — 5 Comments

  1. Hi Dale,
    I just found your website today after telling a friend that my 5 yr old son has G6PDD. She asked many questions for which I did not have the answers. Thank God those questions lead me to find your website. Everything I thought I knew about G6PDD, although not much, was incorrect. First, I thought I was just a carrier. And secondly I did think it was a big deal for my son as long as he avoided moth balls, fava beans and certain drugs. My son and I have eaten many soy products and ibuprofen without incident. So my concern is of our possible future health problems since we do not seem to have sypmtoms. Or is it possible to have such a mild case that we are unaffected?

    Thanks,
    DeVona

    • Hi DeVona,
      Thank you for the kind words. It is not unusual to think that you are unaffected. If you get cut and bleed, you are going to have to bleed quite a bit before you show symptoms of anemia. Likewise, we can have symptoms, but the symptoms have to be pretty severe before we recognize them. Unfortunately, having hemolysis all the time leads to other problems, especially later in life. We are susceptible to diabetes, heart problems, spleen, eye, liver and other things due to the stress of having to make new blood cells and clean up the dead ones all the time. When we get sick from other causes, we tend to be sicker than we would if we were healthy. If we do have a hemolytic crises, it will be worse. So it is VERY important to stay away from everything on the contraindicated lists.

      All the best,
      Dale

  2. Hi Mr. Dale,
    Once again,I’m here and be there always on your site once i got online.
    In this article, I found out that I am a G6PD deficient also and I’ve only knew when gave birth to my 2nd child (boy) who is in 8 months old and diagnose to be a G6PD deficient.My eldest is a 9 y/o girl and I am wondering if she also affected with this syndrome.She never undergo any kind of test related to this. How can I diagnose if she is too affected? Are the food prohibited to my son are shall also be avoided to me? Why didn’t feel any symptoms that I am a deficient one where the foods I ate are mostly on the avoided list? Are all of this possible? I am 33 years of age and I did not encounter any symptoms indicated. Can you please help me to explain further Sir? Thanks in advance and looking forward to hear from you again.

    Best Regards,
    Janet

    • Hi Janet,
      Like the article says, it is harder to tell when women are exposed to a trigger. My mother never knew she was G6PDD. She was told she was a carrier and women were thought to be asymptomatic back then. But as I look back on her life, I recognize things that were signs of hemolysis. If we had known back then what we know now, she would have been much healthier. Yes, you should also avoid the same foods your son avoids. You will be much healthier if you do.

      Women don’t feel the symptoms as much as men do, but they still happen. And over time, they lead to other more serious problems.

      Yes, it is possible that your 9 y/o daughter is also G6PDD. She would have to be tested with a quantitative G6PD test.

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