G6PD Deficiency – Causes, Symptoms And Treatment

Written by Rakhee M
Last Updated on

A G6PD deficiency can lead to many problems for your child and affect the quality of his life. As it’s a genetic condition, there isn’t much you can do. But, there are steps you can take to help your child enjoy a good quality life.

Below, we talk about G6PD deficiency, what causes it, how doctors diagnose it, and how to manage it. So, read on and get the information below.

What Is G6PD Deficiency?

G6PD deficiency is a genetic disorder.

  • G6PD stands for glucose-6-phosphate dehydrogenase, an enzyme in the body. The enzyme promotes red blood cell functioning and processes carbohydrates in the body. A G6PD deficiency can lead to premature red blood cell destruction.
  • A G6PD deficiency indicates a defect in the G6PD enzyme. The defect can hamper G6PD function or production. The G6PD enzyme production is insufficient, or the enzymes may not function at the optimum level.
  • One of the main functions of the G6PD enzyme is to protect the red blood cells from infections or effects of certain medications. With no or insufficient G6PD, the red blood cells begin to destruct. This leads to a condition known as hemolytic anemia, which is the most common outcome of G6PD deficiency [1].

Causes Of G6PD Deficiency:

A G6PD deficiency occurs because of a genetic anomaly.

  • The X chromosome carries the gene that causes this G6PD deficiency. Either one or both parents can pass the gene to their offspring. There are two X chromosomes in females. So, females with G6PD defects in both genes will have the condition. If one gene has the defect, the healthy one can continue to produce sufficient G6PD for normal body functions. But males have only one X chromosome. So, G6PD deficiency is more common in males.
  • People with a family history of G6PD deficiency are also at a greater risk of developing the condition.
  • The symptoms of G6PD deficiency begin to manifest when the body comes into contact with some triggers.
  • Infections (viral or bacterial)
  • Medicines (such as certain antibiotics, drugs for malaria treatment or NSAIDs)
  • Foods (fava beans)
  • Naphthalene (a chemical found in mothballs)
  • Severe stress [2]

Symptoms Of G6PD Deficiency:

The symptoms of G6PD deficiency do not manifest until an exposure to triggers (foods, drugs, infections). These triggers can lead to the destruction of red blood cells. The common symptoms of G6PD deficiency are:

  • Fatigue
  • Enlarged spleen
  • Rapid heartbeat
  • Difficulty in breathing
  • Dark-colored urine
  • Pale skin
  • Jaundice (especially in newborns) [3]

Diagnosing G6PD Deficiency:

Some tests may be necessary for diagnosing G6PD deficiency [4].

  • If your child develops symptoms of G6PD deficiency, the doctor may conduct blood tests to confirm the same. A blood test can indicate levels of G6PD in a person’s body.
  • Blood tests can include a complete blood count (CBC). A CBC is a comprehensive test that measures many components of the blood. Regarding G6PD deficiency diagnosis, a CBC test helps measure the levels of red blood cells and hemoglobin. Hemoglobin is the protein in red blood cells that carry oxygen [5].
  • A Bilirubin blood test can help diagnose G6PD deficiency. Bilirubin is a pigment in bile, produced in the liver. Bilirubin testing lets the doctor know the state of the liver health. It helps in the diagnosis of jaundice. This test also detects red blood cell destruction in the body [6].
  • Lactate dehydrogenase (LDH) test can help in diagnosing liver tissue damage. LDH is a type of enzyme, which is found in many body tissues including liver [7].
  • A blood test can also help to measure reticulocyte levels in the body. Reticulocytes are red blood cells that are mature. So, with a reticulocyte count blood test, the doctor can ascertain if the body is producing sufficient red blood cells [8].

Treating G6PD Deficiency:

The treatment for G6PD deficiency involves removing the trigger from the body.

  • So, if you suspect a drug as the trigger, your child may need to stop using it. Once you remove the trigger, the condition begins to improve within a few weeks.
  • But if your child has severe anemia due to G6PD deficiency the treatment plan will cover steps to bring his red blood count to normal levels.
  • In extremely severe cases, your child may need hospitalization for a blood transfusion or oxygen [9].

Precautions:

With G6PD deficiency, you need to be extremely cautious that your child avoids the triggers that can damage his red blood cells [10].

Some Important Pointers:

  • Make sure your child understand what G6PD deficiency is and how it can affect his health.
  • Teach your kid to avoid the triggers. Make sure he knows to avoid eating anything made with fava beans. Certain kinds of pasta, some lentil dishes or salads may contain fava beans as an ingredient. So, it is important that your child knows how to ask about ingredients in dishes he is served, at a friend’s birthday party or perhaps in the school canteen.
  • If you are breastfeeding your infant, the medicines you take can pass to your child through your breast milk. If you are aware of your child’s G6PD deficiency condition, you have to avoid the food and drug triggers as well. If you are not aware of your child’s condition and if he becomes sick, consult your child’s doctor. If the doctor suspects a G6PD deficiency, she will tell you what medicines you need to avoid
  • while breastfeeding.
  • Refrain from giving your child any medicine without his doctor’s approval. Many over-the-counter drugs may contain chemicals that may serve as triggers for G6PD deficiency symptoms.
  • Even herbal remedies can trigger G6PD deficiency symptoms. Chinese herbal remedies such as Rhizoma coptidis, flos lonicerae, licorice root and others can be potentially harmful to people with G6PD deficiency.

Since G6PD deficiency occurs due to genetic factors, there is no way to avoid it. But if your child receives the diagnosis for G6PD deficiency, take every precaution to limit the exposure to the trigger elements. Ask your child’s doctor about all the foods and medicines he has to avoid.

With awareness and due precautions, your child can continue to live a good quality of life even with G6PD deficiency. Has your child been diagnosed with G6PD deficiency? Has it affected his quality of life in any way? Tell us here.

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