Has your doctor told you to get a G6PD test? Or are you looking into this test because your little one has jaundice and it won't go away? Maybe you've just heard the word G6PD. It's normal to be a little scared because the name is a bit strange. But don't be afraid of anything. Today, we'll talk about this G6PD test and the G6PD deficiency that causes it in a very simple way that you can understand.
Let's first see, what is G6PD?
Okay, let's start with a very simple example. Imagine that the red blood cells in your body are like little houses. Inside these houses, the important work of transporting oxygen takes place. Now, there needs to be a 'guard' to protect these houses, to keep them strong. So, there is a special worker called G6PD that protects our houses called red blood cells and helps keep them healthy.
Medically speaking, G6PD is the short name for the enzyme glucose-6-phosphate dehydrogenase . An enzyme is a protein that helps our body carry out various chemical processes properly. The main function of this G6PD enzyme is to protect our red blood cells from certain chemicals (called reactive oxygen species) that can damage them.
So, if a person's body lacks enough of this guard, or enzyme called G6PD, we call it G6PD deficiency . This is genetic, meaning it's inherited. A person with this deficiency has a slightly weaker red blood cell count. It's like a house without a guard. Then, when exposed to certain things, these red blood cells start to break down and get destroyed quickly. When the body can't make new red blood cells and the old ones get destroyed faster, a condition called anemia occurs. When red blood cells break down in this way, we call it hemolytic anemia .
So, when should you do a G6PD test?
Most of the time, people with G6PD deficiency don't show any symptoms. They live normal lives. However, it's only when they're exposed to certain 'triggers' that the hemolytic anemia condition we talked about earlier occurs and symptoms appear.
Now let's see what these triggers are.
| Triggers that cause symptoms | A simple explanation about this |
|---|---|
| Some infections | The stress in the body caused by infections caused by bacteria or viruses can accelerate the breakdown of red blood cells. |
| Fava beans | This is the most common trigger for this condition. Some people can develop symptoms from eating fava beans or even inhaling their pollen. This is also called 'favism'. |
| Some medications | Not all medications, however, can worsen the condition, such as some antibiotics, antimalarials, and nonsteroidal anti-inflammatory drugs (NSAIDs). Therefore, if you have G6PD deficiency, it is important to tell your doctor before taking any medication. |
So, when you're exposed to a trigger like that, you might develop symptoms of hemolytic anemia. That's when a doctor might suggest a G6PD test. See if these symptoms sound familiar to you.
| Symptom | What does this mean? |
|---|---|
| Sudden fainting (syncope) | When the brain does not receive enough oxygen, unconsciousness can occur. |
| Feeling very tired (Fatigue) | When the red blood cells that carry oxygen throughout the body decrease, you may feel too tired to do even normal tasks. |
| Feeling like your heart is beating fast | The heart has to work harder to pump the blood faster and provide the body with the oxygen it needs. |
| Difficulty breathing (dyspnea) | When oxygen levels in the blood decrease, you may feel short of breath and feel faint. |
| Red or brown urine | When a large number of red blood cells break down, their contents are excreted in the urine, causing the urine to change color. |
| Pale skin | When blood flow decreases, the skin loses its pink color and becomes pale. |
| Yellowing of the skin and eyes (jaundice) | When red blood cells break down, a yellow substance called bilirubin accumulates in the body. This is what causes the skin and whites of the eyes to turn yellow. |
Why do a G6PD test for young babies?
Jaundice is very common in newborn babies. Most of the time, it will go away on its own within a few days to two weeks. However, if some babies have jaundice for more than two weeks and no clear cause can be found, your doctor may recommend a G6PD test.
Additionally, if you know that someone in your family has G6PD deficiency, it's a good idea to have this test done after the baby is born. That way, you can be aware of this in advance and take precautions.
How common is G6PD deficiency?
This is actually a very common genetic condition in the world. It is believed that over 400 million people worldwide have this condition. However, as we have said before, the majority of these people will not experience any symptoms throughout their lives.
Symptomatic G6PD deficiency is more common in men than in women, and is more common in people of Asian, African, or Mediterranean descent.
How is the G6PD test done?
This is a very simple, routine blood test. There is nothing to be afraid of in any way. It takes less than five minutes.
- A small needle is inserted into a vein in a patient's arm and a blood sample is taken.
- Then the splinter is removed and a small plaster is applied.
Some people have a slight fear of needles (this is called trypanophobia). If you have this fear, tell the nurse who draws your blood. They will help you. You can look away, breathe slowly, or have a friend or family member with you during the blood draw.
How to do this test for babies
Because it is difficult to get blood from a baby's arm, a blood sample is taken from the heel of their foot. Very carefully, a small needle is used to puncture a small spot on the heel and a few drops of blood are collected. A small bandage is then applied to the area. The baby may feel a slight stinging sensation, but this will go away quickly. There may be a slight bruise, but this will heal in a day or two.
Do I need to prepare before the test?
This is a very important issue. Yes, there are some things to be careful about.
- Tell your doctor about all the medications you take (including vitamins and supplements).
- Some medications and foods can affect the results of this test. So your doctor may tell you to avoid eating fava beans or stop taking certain medications that contain sulfa for a few days.
- Usually, fasting is not required before this test.
Here's something very important: If you have active symptoms of hemolytic anemia (e.g., jaundice, fatigue) on the day you have your test, your doctor may postpone the test until another day. This is because by the time you have symptoms, G6PD-deficient red blood cells are often destroyed. That leaves only healthy cells in your blood. If you do a test at that time, you may get a false result that says your G6PD level is normal.
Are there any risks with this test?
This is a very low-risk test. Like any other blood test,
- A small wound where the needle was inserted.
- A small bruise
- Very rarely, bleeding or infection
Things like that can happen, but these usually heal completely in a day or two.
What does the test report say?
If your report shows that your G6PD level is low, it means that you have G6PD deficiency. But it does not mean that you definitely have hemolytic anemia. Many people live without any symptoms. The most important thing is to stay away from the triggers that cause symptoms.
Some women may have slightly lower G6PD levels than normal. This means they are a 'carrier' for G6PD deficiency. Simply put, they have both the gene for G6PD deficiency and the healthy gene in their genes. These people usually don't have symptoms. But they can pass the gene on to their children.
What time should I see the doctor?
Many people with G6PD deficiency live successfully without triggers. But if you develop symptoms of hemolytic anemia, and those symptoms include:
- If it is too severe to do your daily activities
- If it lasts more than 24-48 hours
See your doctor immediately. In severe cases, you may need to be hospitalized for treatment. In such an emergency, you should go to the Emergency Department (ETU) of the nearest hospital.
Take-Home Message
- G6PD is an important enzyme that protects our red blood cells.
- A deficiency in this enzyme (G6PD deficiency) is a genetic condition.
- Many people have this condition but do not show any symptoms.
- Exposure to triggers such as fava beans, certain medications, and infections can cause red blood cells to break down, causing hemolytic anemia.
- The G6PD test is a simple blood test that is done to detect this condition.
- If you have G6PD deficiency, the most important thing is to know what your triggers are and avoid them.
- Most importantly: If you have G6PD deficiency, be sure to inform your doctor before prescribing any new medication.
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