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G6PD Deficiency

G6PD, which stands for Glucose-6-Phosphate Dehydrogenase is an enzyme in the red blood cells. It acts to protect the red blood cells from hemolysis (breakage of the red blood cells) when exposed to certain medications, food or infections. G6PD deficiency occurs when there is reduced activity of the enzyme in the red blood cells.

Diagnosis

G6PD is very common in the Asian region. In Malaysia, all newborn babies are screened for G6PD deficiency using the blood from the umbilical cord at birth. G6PD deficiency is a hereditary condition that is determined by the X chromosome. This explains why most of those affected are males while females are usually carriers.

The test to detect the presence of the enzyme is a simple one and it is worthwhile to know the status of your loved ones.

Symptoms

Most people with G6PD deficiency are asymptomatic. Newborn babies known to have this condition by screening will be admitted for a certain duration of time in the ward since they can develop jaundice (yellowish discolouration of the skin and sclera) rapidly, due to excessive hemolysis. Babies with jaundice are placed under phototherapy lights to reduce the level of bilirubin in the blood (Picture 1)

Signs and symptoms of hemolysis include:

Due to anaemia (low level of red blood cell):

  • looks pale
  • lethargic or tiredness in the older child
  • dizziness
  • rapid heart beat (palpitations)
  • difficulty in breathing
  • chest pain

Due to hemolysis:

  • jaundice of skin and white part of the eyes
  • tea coloured/ Coca-cola appearance of urine

If this happens, do seek medical treatment immediately. G6PD deficiency is a lifelong condition. Although there is no treatment available to reverse it, it does not have any negative effects and does not affect the growth and development of children.

Medications and other things to avoid

Adults and children with G6PD deficiency need to understand this condition thoroughly. They need to avoid certain medications and other things that can lead to hemolysis (list of medications etc as depicted in Diagram 1) Hemolysis also occurs if the affected person consumes fava beans (Picture 2) or uses naphthalene balls (moth balls) in the home. These are things to be avoided as well.

Breastfeeding is encouraged and mothers with babies who have G6PD deficiency should continue to breastfeed, but they are advised to avoid taking medications/substances in Diagram 1 as they may be present in the breast milk in small amounts.

Infections can also lead to hemolysis.

Inform your doctor if you or your loved ones have G6PD deficiency to ensure that the medications you receive are safe for consumption and will not cause excessive hemolysis.


Picture 1 : Infant undergoing phototherapy


Picture 2 : Fava beans

Diagram 1 : Medications/substance that can lead to excessive hemolysis

Foodstuff and herbs to avoid
Medications that can be given in therapeutic doses
  • Fava beans
  • Chinese medication
    • Chuen Lin
    • San Chi
    • 13 herbs
    • 12 herbs
  • Other traditional medication (ask your doctor)

Things to avoid

  • Moth balls
  • Mosquito coils containing pyrethium

Medications to avoid

  • Acetanilide
  • Doxorubicin
  • Furazolidene
  • Methylene Blue
  • Nalidixic acid
  • Niridazole
  • Nitrofurantoin
  • Phenozopyridine
  • Primaquine
  • Sulfamethoxazole
  • Bactrim
  • Paracetamol
  • Ascorbic acid
  • Aspirin
  • Chloramphenicol
  • Chloroquine
  • Colchicine
  • Diphenhydramine
  • Isoniazid
  • Phenacetin
  • Phenylbutazone
  • Phenytoin
  • Probenecid
  • Procainamide
  • Pyrimethamine
  • Quinidine
  • Streptomycin
  • Sulfisoxazole
  • Trimethoprim
  • Tripelennamine
  • Vitamin K
  • Mefloquine

 

Last reviewed : 26 April 2012
Content Writer : Dr. Fazila Kutty
Reviewer : Dr. Irene Cheah Guat Sim