What disease does G6PD deficiency in infants cause?

This is an automatically translated article.

The article is professionally consulted by Master, Doctor Phan Thi Cam Van - Neonatologist - Department of Pediatrics - Neonatology - Vinmec Danang International General Hospital. Dr. Van has 07 years' experience as a Resident Doctor and a Pediatrician - Neonatologist at Hue Central Hospital and Hue University Hospital of Medicine and Pharmacy. Her strength is in the treatment of pediatric respiratory and digestive diseases, infectious diseases, especially, experience in newborn care and treatment, neonatal resuscitation.

G6PD deficiency is a common genetic disease in which red blood cells break down and do not function properly. Newborns with this syndrome often have severe anemia, jaundice, and are likely to have cerebral palsy later on.
Understanding the disease and having screening measures right after birth are essential to prepare your baby for the first healthy days of life.

1. What is G6PD enzyme?

G6PD is an acronym for Glucose-6-phosphate Dehydrogenase. G6PD is one of the enzymes that are always produced in all normal human cells. This is an important catalyst for metabolic reactions in cells and is especially important for red blood cells. Lack of G6PD enzyme leads to a lack of glutathione - an antioxidant that protects red blood cell membranes against oxidizing agents found in some drugs, foods, and infectious disease agents.
If the amount of glutathione is reduced, enzymes and proteins will be damaged by oxidation leading to damaged, dysfunctional and broken red blood cells.

2. What is G6PD deficiency?

G6PD deficiency is a common disease characterized by a defect in the red blood cell membrane of the G6PD enzyme. Currently, around the world, it is estimated that nearly 400 million people are deficient in G6PD enzyme. The disease is most common in ethnic groups in Africa, the Middle East, tropical and subtropical Asia, some areas around the Mediterranean and Papua New Guinea. The disease is also known as “Favism” because people with G6PD deficiency are allergic to Fava beans.
G6PD deficiency is a sex-linked genetic disease (X-chromosome) so men are more likely to get it than women.

3. What disease does G6PD deficiency in infants cause?

In children with G6PD deficiency, if they are not exposed to high levels of oxidants, sometimes they have no symptoms at all. In contrast, if the level of G6PD enzyme deficiency is severe or exposure to drugs, foods through breast milk are highly oxidizing, red blood cells are broken leading to hemolysis appearing very soon after birth. When the red blood cells break down, they release free bilirubin into the blood, causing the baby to have jaundice, yellow eyes and kidney failure due to high levels of bilirubin in the blood.
Jaundice symptoms in these children usually appear within 1 - 4 days at the same time or slightly earlier than physiological jaundice. However, the degree of jaundice is often more severe and accompanied by anemia. At that time, if the free bilirubin is too much, showing severe jaundice, especially in the first 2 weeks after birth, bilirubin will seep into the brain, causing irreversible neurological complications that will affect the baby's brain. Later, mental retardation.
At the same time, prolonged hemolysis will lead to anemia. As a result, the amount of oxygen is not enough to supply the body's vital activities. Children are always lethargic, less flexible, fast breathing, fast heart rate and slow physical development. Due to stunting, malnutrition, growth retardation, poor immunity of the body, children are susceptible to infections such as recurrent respiratory infections, prolonged diarrhea.

4. How to screen for G6PD deficiency in newborns

Although G6PD deficiency is very common, to date there is no complete cure. The most important thing is still the screening test for G6PD deficiency early after birth, because children with G6PD deficiency can inherently develop normally like their peers, completely without any symptoms of the disease if cared for. properly, especially in the neonatal period. On the contrary, if the disease is not detected and properly cared for early, hemolysis, jaundice and hyperbilirubinemia can leave severe sequelae due to cerebral palsy.
Screening is usually done 36 to 48 hours after birth. Your baby will have a blood sample taken from the heel or hand. After that, the child's blood is soaked in paper that has been impregnated with chemicals to screen for G6PD deficiency. At Vinmec's facilities, the test is done by taking venous blood of the newborn, the results are more accurate.
When participating in all-inclusive maternity care programs at Vinmec, besides the usual checkups for mothers and newborn babies, G6PD screening tests are performed routinely in newborns. The goal of screening is to help early detection and prevention plans for babies from the first days after birth. From there, parents can rest assured that the baby still has the opportunity to develop as normal children, minimizing the sequelae of cerebral palsy.
As a key area of ​​Vinmec Health system, Pediatrics Department always brings satisfaction to customers and is highly appreciated by industry experts with:
Gathering a team of top doctors and nurses in Pediatrics : consists of leading experts with high professional qualifications (professors, associate professors, doctorates, masters), rich experience, having worked at major hospitals such as Bach Mai, 108,... The doctors are well-trained, professional, have a mind - range, and are knowledgeable about young psychology. In addition to domestic pediatric specialists, the Department of Pediatrics also has the participation of foreign experts (Japan, Singapore, Australia, USA) who are always pioneers in applying the latest and most effective treatment regimens. . Comprehensive services: In the field of Pediatrics, Vinmec provides a series of continuous medical examination and treatment services from Newborn to Pediatric and Vaccine,... according to international standards to help parents take care of their baby's health from birth to childhood. from birth to adulthood Specialized techniques: Vinmec has successfully deployed many specialized techniques to make the treatment of difficult diseases in Pediatrics more effective: Neurosurgery - skull surgery, stem cell transplantation blood in cancer treatment. Professional care: In addition to understanding children's psychology, Vinmec also pays special attention to the children's play space, helping them to have fun and get used to the hospital's environment, cooperate in treatment, improve the efficiency of medical treatment.

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