Disease screening g6pd results are low

If you receive a low G6PD disease screening result, first of all, you don’t have to panic to determine that you/your child has favismosis. Only about 60% of low initial screening results will eventually be diagnosed as glucose-6-phosphate dehydrogenase deficiency. The remaining high probability is false positives caused by specimen errors, physiological fluctuations of newborns, and transient physical conditions. The final result must be confirmed by venous blood reexamination or even genetic testing.

I was in the genetic counseling clinic last Wednesday. As soon as the door opened, a young mother rushed in with her one-month-old baby. One of her shoes had slipped away. On the newborn screening sheet she was holding in her hand, the value of G6PD was nearly half lower than the reference value. The red arrow made her eyes dizzy. She shed tears as soon as she sat down. She asked, "Will the baby not be able to touch broad beans or even mints?" I handed her a tissue first, and the first thing I said was, don't panic. Four or five out of ten people here who have low initial screening results are normal in the re-examination.

It's really not about comforting her. There are too many false positives in initial screening in clinical practice. For example, when collecting blood from a newborn's heel, many novice nurses are afraid that they will not be able to squeeze out the blood, so they pinch the baby's heel repeatedly, and the squeezed blood will be mixed with too much tissue fluid, or the specimen will be left at room temperature for three or four days after collection before being sent for testing. The activity of the enzyme has long been degraded, and the test result will naturally be low. There used to be a mother who came from out of town. She collected blood from her mother and child and saved it for a week before sending it to a third party for testing. The initial screening value was ridiculously low. She came to us to take a venous blood test and found that it was all normal, which made her anxious for less than half a month. There are also people who have just had an acute infection, or have recently used oxidative drugs such as aspirin and sulfonamides. The results will also be low. After the body has metabolized for a week or two and then check again, the value will return to the reference range. This kind of temporary decrease does not need to be taken care of at all.

Of course, it is true that some people still have low levels after reexamination, which means they are really lacking G6PD. Regarding the management of this type of patients, there are actually two different ideas in the industry: During the previous academic conference, some experts from Beijing, Shanghai and Guangzhou advocated "strict taboos". As long as G6PD deficiency is diagnosed, the patient will be given a dense list of contraindications, ranging from broad beans to mothballs, mint, honeysuckle, and even many commonly used antipyretics. They are required not to touch them at all, for fear of inducing hemolysis. ； However, there is another group of experts who advocate "graded management", which is to first see how low the patient's enzyme activity is, whether it is mild or severe. In fact, patients with mild symptoms only need to avoid triggers that are clearly strong oxidants and have a large number of hemolytic cases, such as fava beans, primaquine, methylene blue, and low-risk ones like peppermint and honeysuckle. It doesn't matter if they touch it occasionally. There is no need to be overly anxious, but it will affect the quality of life.

I am more inclined to the latter type. I have a mild G6PD deficiency since I was a child. When I was a child, I ate half a plate of broad beans and developed hemolysis. After that, I didn’t eat too much. I occasionally ate mint ice cream and drank herbal tea with honeysuckle in the summer, and there were no problems. To put it bluntly, this disease means that your red blood cells are a little more fragile than others. As long as you don't touch anything that can break them, you are no different from normal people. There is no need to live your life like walking a tightrope.

Oh, by the way, if you really get low results, don’t search blindly on Baidu with the list. I have seen too many patients feel that they are not going to die soon after searching. It’s just to scare yourself. The most reliable thing is to wait for a period of time. For newborns, it is best to wait for 3 months. After the red blood cell enzyme activity has stabilized, go to a regular hospital to draw venous blood to recheck the G6PD activity. If it is still low, do a genetic test to clarify the type, and then determine the precautions based on the type. Even if it is really diagnosed, it is not a big deal. The most severe patient I have ever encountered, as long as he pays attention to avoiding high-risk triggers, he is over 40 this year and rarely catches a cold. It is not as scary as what is said on the Internet.

Nowadays, many routine physical examinations and pre-pregnancy examinations also include G6PD screening. Many people accidentally detect low levels and have never had symptoms of hemolysis. Most of these are mild or false positives. Just ask a specialist for a review. There is really no need to take it too seriously.