What can happen to a child with G6PD deficiency?

This is an automatically translated article.

This article is professionally consulted by Master, Resident Doctor Dang Thi Ngoan - Pediatrician - Neonatologist - Department of Pediatrics - Neonatology - Vinmec Ha Long International Hospital.

G6PD deficiency disease is very common, children with G6PD deficiency with proper care can develop normally. But if not detected, prevented and intervened in time, children can have severe sequelae, even cerebral palsy.

1. What is G6PD deficiency?


Enzyme G6PD stands for Glucose-6-phosphatase dehydrogenase. This is an enzyme located on the membrane of red blood cells that protects the cell membrane from oxidizing agents in the blood.
G6PD deficiency is a very common genetic yeast disease. About 400 million people worldwide have this disease. Out of 100 babies, there will be about 3-4 children with G6PD deficiency. In Vietnam, 4 out of every 1000 children get sick.
People with G6PD deficiency disease will have very sensitive red blood cells that are easily broken when exposed to oxidizing agents in the blood because the patient tolerates them in the body through eating, having an infection or progressing to cancer. transmission practice. The patient will be very allergic to legumes.
G6PD deficiency is a recessive genetic disease caused by mutations in the gene located on the X chromosome, at position Xq28. Therefore, boys have a higher risk of getting the disease than girls, because boys only have 1 X chromosome. Parents who carry the disease gene can pass it on to their babies. However, there are also a few cases of children getting the disease while their parents are completely healthy and do not carry the disease gene.

2. What happens when a child has a G6PD deficiency?


Children with G6PD deficiency may have two problems: hemolytic anemia and prolonged neonatal jaundice. The reason is that the G6PD enzyme plays an important role in the biochemical reactions of red blood cells, helping the cell membrane to resist oxidizing agents. Deficiency of G6PD enzyme will make red blood cells vulnerable, easily broken, leading to hemolysis. Prolonged hemolysis leads to anemia.
In addition, broken red blood cells release a free bilirubin into the blood. Liver cells cannot metabolize to excrete this substance, causing free bilirubin to remain in the blood, causing jaundice in newborns. More dangerous can also seep into the brain leading to neurological complications, cerebral palsy.
Manifestations of hemolytic anemia in infants include:
Babies who refuse to breastfeed; Jaundice, yellow eyes;

Trẻ bị thiếu men G6PD ở trẻ em
Trẻ bị thiếu men G6PD ở trẻ em

Urine is dark yellow; Tired body; Greenstone; Or sweat; Cold limbs; G6PD deficiency is hereditary and cannot be cured. However, the disease may not affect the child if the child is properly cared for in time. Children with G6PD deficiency will receive long-term counseling and treatment.

3. Manifestations of children with G6PD . deficiency


G6PD deficiency disease has no specific symptoms. Some babies may have neonatal jaundice that lasts for more than 1 week. However, it is also very difficult to detect through this feature.
Children with G6PD deficiency only have more obvious symptoms when eating foods that are contraindicated for people with G6PD deficiency or infections. At that time, the child has symptoms such as:
Jaundice, yellow eyes; Abdominal pain, especially in the low back; Headache; Fever; heart palpitations; Shortness of breath; Dark yellow urine; After about 1.2 days, the child will have severe anemia, show extreme fatigue, accompanied by manifestations of liver failure, kidney failure, even death if not treated promptly.

4. What to do when a child has G6PD deficiency?


When taking care of children with G6PD deficiency, it is important to note:
Do not give children food or drink that is contraindicated for people with G6PD deficiency, drugs containing substances that can cause hemolysis; Do not use mothballs in wardrobes, blankets, bedding, especially in children's items because mothballs contain oxidizing agents; Be careful when giving children using male and traditional medicines because they may contain oxidants; For children with G6PD deficiency who are still breastfeeding, the mother should not eat foods or take medicines containing oxidants because these substances can affect the baby through breast milk; Notify children about G6PD deficiency when they go to medical facilities. Do not arbitrarily give children drugs without a doctor's prescription.

5. What to do for early diagnosis of G6PD deficiency in infants?


Xét nghiệm lấy máu gót chân chẩn đoán sớm thiếu men G6PD ở trẻ sơ sinh
Xét nghiệm lấy máu gót chân chẩn đoán sớm thiếu men G6PD ở trẻ sơ sinh

G6PD deficiency disease will not be dangerous if detected in time. Therefore, it is best to have newborns screened for newborns by having a heel blood drawn within the first 48 hours after birth or a venous blood sample after 72 hours of birth.
If the child has a low G6PD enzyme, they will receive special care, minimizing the risk of infection and viral infection.
This is a genetic disease, so if the parents have the gene that causes the disease, they should actively test their children carefully.
The Maternity Care Program implemented by the International General Hospital has a full range of prenatal, intrapartum and postpartum screening tests for mother and baby, including a heel blood test for early diagnosis of anemia. G6PD enzyme in neonates.
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), experienced, worked at major hospitals such as Bach Mai, 108.. Doctors All doctors are well-trained, professional, conscientious, 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. Doctor Dang Thi Ngoan used to be a lecturer in the Department of Pediatrics - Hai Phong University of Medicine and Pharmacy. Having been granted certificates in Pediatrics at home and abroad such as: Westmead Hospital, Australia; Hai Phong Medical University. Currently, Doctor Ngoan is a pediatrician - neonatologist at the Department of Neonatology at Vinmec Ha Long International Hospital.

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