Patient's question:
My male baby is now 2 years old and he has G6PD deficiency. I want to ask is that during the prenatal check-up, the G6PD test was conducted and I had no issues. Why would my son develop G6PD deficiency then? Isn't it that boys inherit G6PD deficiency from their mothers? Would G6PD deficiency affect his lifespan?Medical history and treatment outcomes: Except for G6PD deficiency, he is very healthy.
What kind of help do you need: Please answer the questions.
Doctor's answer:
G6PD deficiency, commonly known as favism, is the most common inherited enzyme deficiency disease, characterized by a genetic lack of glucose-6-phosphate dehydrogenase (G6PD). G6PD deficiency is an X-linked incomplete dominant genetic disorder, with varying degrees of enzyme deficiency. In some female heterozygotes, enzyme activity may be normal. Therefore, if your wife's G6PD test is normal, the baby is likely unaffected. When G6PD deficiency does not cause symptoms without any triggers, it is similar to normal individuals and requires no special treatment.Neonatal jaundice refers to jaundice in newborns under one month of age (within 28 days after birth). It is a condition during the neonatal period where abnormal bilirubin metabolism (excessive bilirubin production, impaired liver bilirubin metabolism, or bile excretion) leads to elevated bilirubin levels in the blood, resulting in yellowing of the skin, mucous membranes, and sclera.