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What is G6PD Deficiency ?

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Get to Know What is G6PD Deficiency

G6PD, which stands for Glucose-6-Phosphate Dehydrogenase.

It 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.

How is it diagnosed?

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 determines by the X chromosome. This explains why most of those affected are males while females are usually carriers.

Hence, 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.

What are the symptoms of G6PD Deficiency?

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. Which is the yellowish discolouration of the skin and sclera rapidly. And this is due to excessive hemolysis in the red blood cell.

Thus, babies with jaundice are placed under phototherapy lights to reduce the level of bilirubin in the blood.

To identify 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 heartbeat (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.

How you should manage if you have G6PD deficiency?

Generally, G6PD deficiency is a lifelong condition. Although there is no treatment available to reverse it.

However, it does not have any negative effects and does not affect the growth and development of children.d

Medications and other things to avoid

Adults and children with G6PD deficiency need to understand this condition thoroughly. As a result, they need to avoid certain medications and other things that can lead to hemolysis.

Besides, hemolysis also occurs if the affected person consumes fava beans or uses naphthalene balls (mothballs) in the home.

Fava beans

Apart from that, breastfeeding is encouraged and mothers with babies who have G6PD deficiency should continue to breastfeed.

However, they are advised to avoid taking medications/substances as they may be present in the breast milk in small amounts.

Infant undergoing phototherapy

Inform your doctor or pharmacist

In conclusion, inform your doctor if you or your patient has G6PD deficiency to ensure that the medications you receive are safe for consumption and will not cause excessive hemolysis.

 

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Content Source :

  1. Malaysia Pharmaceutical Society

 

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