Danger level: Medium
What is it?
G6PD deficiency is a hereditary disease causing anemia in certain situations.
Who gets it?
G6pd deficiency is an inherited disease. Its mode of inheritance is X-linked. This means that the mutation is caused in the X chromosome (one of our 46 chromosomes). For reasons beyond the scope of this article, this means that it almost always occurs only in males.
It’s most common in people of Mediterranean (Italian, Greek, Arab, Sephardic Jewish) or African origin (in the US, it occurs in about 10% of African Americans). It affects about 200 million people worldwide.
What causes it?
G6PD is an enzyme in our body which helps the body produce gluthatione. Gluthatione is a molecule which helps to protect the body against free radicals, which are harmful molecules. These molecules can damage our red blood cells under certain conditions.
In G6PD deficiency, like the name says, there’s a deficiency in the G6PD enzyme. This means that people with the disease don’t produce enough gluthatione to fight the free radicals, which puts their red blood cells at risk.
The bright side – the red blood cells aren’t at risk all the time, but only in certain situations which raise the level of free radicals:
- Taking certain drugs – Such as dapsone, primaquine, sulfamethoxazole, doxorubicin, methylene blue.
- Infections
- Certain foods – Such as fava beans. The interesting thing is that people with G6PD deficiency don’t even have to eat the beans in order to cause damage to the blood cells – it’s enough that they inhale their pollen.
- Diabetic ketoacidosis – This is a condition that can happen to people with diabetes.
How does it feel?
Most of the time, people with G6PD deficiency are well. When the conditions mentioned above occur, there is a destruction of red blood cells, which leads to anemia and sometimes jaundice (yellowing of the skin). The destruction of red blood cells is called hemolysis. It can happen within hours of exposure to the condition (drug, food, etc.).
The level of the deficiency in G6PD (meaning how much of it exists in the body) will determine how bad the condition will get. Sometimes the hemolysis can stop once you stop taking the drug (this is more common in people of African origin), but it can also continue after you’ve stopped taking it. In severe cases, damage to the kidneys can occur.
The most important thing here is what can happen to babies with G6PD deficiency. A lot of babies have jaundice on their first days. In G6PD deficiency, this jaundice can be prolonged, which can cause damage to the brain.
How is it discovered?
There are a few things that can be done to discover the disease:
- A blood smear – In which some drops of blood are smeared against a piece of glass and then looked at under a microscope. Certain things can be seen in G6PD deficiency because of the destruction of blood cells.
- Checking the level of G6PD – To see that it’s indeed low.
How is it treated?
Since the destruction of blood cells usually stops by itself, no treatment is usually necessary. In severe cases, blood transfusions might be necessary.
In babies with jaundice, usually a treatment with a special kind of light helps to resolve the problem.
The bottom line – How do I avoid it?
You can’t prevent having the defect in the gene which causes the deficiency in G6PD. What you can do is avoid the things mentioned above which can trigger the destruction of blood cells (not eat any fava beans (or smell their pollens), avoid the dangerous drugs, avoid infections).
What next?
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