Patient's question:
Congenital hypothyroidism (TSH) - Negative (- Phenylketonuria (PKU) - Negative (- Red blood cell glucose-6-phosphate dehydrogenase (G6PD) - Positive (17-hydroxyprogesterone 7-OHP - Negative (Blood test for G6PD please bring your hospital's new pediatric department for confirmation!Doctor's answer:
Hello, G6PD deficiency is commonly known as favism, which is the most common hereditary enzyme deficiency disease caused by mutations in the G6PD gene, leading to reduced enzyme activity. As a result, red blood cells cannot resist oxidative damage and are destroyed, causing hemolytic anemia. If there is a history of this genetic family, the probability of getting the disease is very high. If not, just re-examination is needed.