Disease screening g6pd results are low

When you receive a report of low G6PD (glucose-6-phosphate dehydrogenase) screening results, first of all, don’t panic. This does not mean a direct diagnosis of G6PD deficiency (commonly known as favismosis). It only indicates the possibility of the disease. It may also be a false positive caused by specimen errors, immature physiological development, transient metabolic abnormalities and other factors. The final diagnosis requires a comprehensive judgment based on review results, clinical symptoms and genetic testing.

I worked in the newborn screening post at a maternal and child health hospital for almost two years. I have explained thousands of reports like this. The one that impressed me the most was a new mother who came in last winter wrapped in a down jacket and holding her premature baby who was just one month old. She took off the mask and her face was filled with tears. She said that she had searched at home and found that the baby had favisa disease. In the future, she could not even touch broad beans, and she might even suffer from kidney failure. In fact, it was really not that exaggerated.

To put it bluntly, this enzyme is the "antioxidant bodyguard" of red blood cells. Our red blood cells have to bear all kinds of oxidative stimuli every day, and they rely on it to block it in front. If its amount is insufficient, its activity is low, and it encounters strong oxidants, the red blood cells will directly rupture and hemolyze. This is the pathogenesis of G6PD deficiency.

In fact, there is no completely unified standard in the industry for how to deal with this kind of low screening. Some doctors prefer "early diagnosis, early peace of mind". As long as the initial screening is low, they directly recommend genetic testing. After all, this disease is an X-linked recessive genetic disease. The incidence rate of men is more than 5 times that of women. Early diagnosis can avoid risks early and avoid accidentally eating broad beans, touching mothballs or using contraindicated drugs that can cause hemolysis.； However, many clinicians feel that it is not necessary to do genetic testing at the outset, especially for newborns. The false positive rate is too high - the red blood cells of premature babies are not fully developed, and the enzyme activity is about 30% lower than that of full-term babies. Babies who are in the jaundice stage or have used certain drugs before blood collection may be found to have a transient low level. If they are rechecked after half a year old, the enzyme activity of more than half of the children can return to the normal range. There is no need to spend hundreds of dollars for genetic testing.

Let’s talk about the mother who came crying just now. Her baby was born prematurely at 34 weeks. At that time, the jaundice had not returned to the normal range. The initial G6PD activity was only 28% of the normal value. I asked her to go back to normal feeding first, as long as she did not touch the baby for the time being. Brain pills, don’t feed antipyretics privately, just wait until half a year old for a review. Later, when she came for a review, the baby was bouncing around, and the enzyme activity directly rose to 90% of the normal value. There was no problem at all, it was just a false positive caused by the failure to keep up with the original development. Of course, not all low values ​​are false. I also met a 4-year-old boy whose initial screening test was low when he was born. His family thought the baby could run and jump and did not take it seriously and did not review it. In the spring of that year, the family fried fresh broad beans and the baby ate less than half a plate. He passed strong brown urine that night and his face was sallow. When he was sent to the emergency department, he already had moderate hemolysis. Later, it was found that the gene was indeed G6PD deficiency. Fortunately, he was sent to the hospital in time and no major problems occurred.

Oh, by the way, not only newborns, but also some adults will be found to have low G6PD during physical examination. Most of them are caused by recent consumption of drugs that damage red blood cells, or a temporary decrease caused by infection with certain viruses. If the original disease is cured and the medicine is stopped and then re-examined, most of them can return to normal levels. Don't sentence yourself to "fabum disease" as soon as you see a low level.

If you really encounter this result, there is no need to frighten yourself by searching for all kinds of scary cases with the report, and don't directly label yourself or your baby as a "bava bean patient". First, check whether there are any symptoms related to hemolysis - such as whether newborns have lingering jaundice and abnormal urine color, and whether adults have unexplained anemia and abdominal pain. If there are no abnormalities, wait 1-3 months and then recheck the enzyme activity. If the recheck is still low, it is not too late to consider genetic testing. Even if you are really diagnosed, don’t be afraid. To put it bluntly, this disease is a “trigger onset”. As long as you avoid clear contraindications such as broad beans, moth balls, sulfa drugs, and some antipyretic and analgesic drugs, your daily life is no different from that of normal people. I have seen many diagnosed children grow up to the age of eighteen or nineteen without even a single hemolysis. They scored perfect scores every time in physical education tests and had no impact at all.

I have been doing screening for so long, and my biggest feeling is that screening is essentially a "preliminary screening" step. Its purpose is to remind you that "there may be a problem here, so pay more attention." It is not a final verdict. Don't be frightened by a number, and don't just ignore it and ignore it. Asking a regular hospital's hematology department or pediatrician for evaluation is a hundred times more reliable than searching blindly on the Internet.