What Is G6PD, Causes, Treatment, Precautions?

**Did you know that G6PD deficiency is a genetic condition that affects about 1 in 10 African American boys in the US? **

G6PD deficiency affects red blood cells, leading to hemolytic anemia, which is the most severe condition. It occurs when the body cannot replace RBCs as quickly as they’re destroyed. Let’s explore G6PD deficiency in detail.

What is G6PD?

G6PD stands for Glucose-6-Phosphate Dehydrogenase. This enzyme is found in the red blood cells and helps them break down glucose. When exposed to certain medications, foods, or diseases, it helps to protect the red blood cells from hemolysis (the breaking up of red blood cells) and other complications.

It is possible to have a G6PD shortage if the enzyme’s activity in the red blood cells is significantly reduced.

G6PD Deficiency Occurs – How many occurrences are there?

G6PD Deficiency is found in the following numbers per year –

  • Widespreadon (over 10 million occurrences)

Common Age Group

  • G6PD Deficiency can occur at any age.

Common Gender Group

  • Any gender can have G6PD Deficiency.

G6PD Deficiency Risk Factors

Factors that may raise the risk of G6PD Deficiency include-

  • bacterial or viral infection-related stress.
  • fava bean consumption
  • Usage of drugs derived from quinine have a family history

These risk factors do not guarantee that you will develop G6PD deficiency.

Causes Of G6PD Deficiency

  • G6PD deficiency is inherited from one or both parents
  • It is caused by a faulty gene on the X chromosome
  • Men have a higher risk of being affected as they only have one X chromosome
  • Women with both copies of the G6PD gene mutated may be affected, but those with one mutation may also exhibit symptoms

Symptoms Of G6PD Deficiency

  • Symptoms of G6PD deficiency can range from mild to severe.
  • Common symptoms include fatigue, pale skin, shortness of breath, and rapid heartbeat.
  • Other symptoms can include dark urine, yellowing of the skin and eyes, abdominal pain, and fever.
  • In severe cases, hemolysis (breakdown of red blood cells) can lead to jaundice, anemia, and potentially life-threatening complications.

The following are signs and symptoms of hemolysis-

Anemia (low red blood cell count) causes a pale complexion, resulting in –

  • lethargic or tiredness
  • swiftestst heart ratest (palpitations)
  • dizziness
  • discomfort in the chest
  • Breathing problems

Due to hemolysis –

  • Urine has a tea-colored tint
  • jaundice (yellowness of skin and white part of the eyes).

In this case, seek emergency medical attention. G6PD insufficiency is a chronic disorder that lasts a lifetime.

However, even though there is no cure, there are no harmful impacts on children’s growth or development, nor is there any medicine available to reverse the condition.** **

Complications Of G6PD Deficiency

  • G6PD deficiency can cause severe anemia (favism) if fava beans are consumed.
  • Children are more susceptible to favism than adults.
  • Favism symptoms include fever, irritability, diarrhea, dark urine, and yellowing of the skin.
  • G6PD deficiency is always present in favism patients, but not everyone with G6PD deficiency will react to fava beans.

Diagnosis Of G6PD Deficiency

  • **Blood tests: **G6PD enzyme levels, complete blood count, serum hemoglobin test, and reticulocyte count
  • Beutler fluorescent spot test: detects G6PD-produced NADPH using ultraviolet light
  • Doctor’s inquiry: information on diet and medications to determine symptoms’ cause.

What Is The Treatment For G6PD Deficiency?

  • Avoiding triggers is the primary treatment for G6PD deficiency in babies
  • Anemia may require treatment such as blood transfusions
  • Jaundice in babies can be treated with ‘bili lamps’ or exchange transfusions in severe cases
  • Inform your doctor about your baby medical history before starting any new medications

Seek immediate medical attention for infections, as they can cause hemolysis in patients with G6PD deficiency.

What Happens Following A G6PD Test?

Following your G6PD test, your doctor will review the results with you.

A hereditary disorder causes G6PD deficiency. No treatment exists for this condition. However, avoiding specific triggers will help you avoid hemolytic episodes and anemic symptoms.

An episode of hemolysis caused by a G6PD deficiency has the following triggers-

  • savoring the flavor of fava bean
  • sulfa-based medications
  • moth repellents and toilet bowl deodorizers include the chemical naphthalene.
  • Take aspirin (Bayer) and other NSAIDs, such as ibuprofen, as possible triggers for this condition (Advil).

Your doctor will inform you of any other substances you should avoid due to the potential for adverse effects. To name a few, there are-

  • methylene bluish
  • nitrofurantoin (Macrobid, Macrodantin), a drug used to treat urinary tract infections (UTIs)
  • phenacetin, a pain reliever.
  • anti-malarial medication primaquine
  • quercetin, a widely used supplement component

A-List Of Medications And Other Precautions To Keep In Mind

  • To avoid hemolysis, people with a G6PD deficiency should avoid certain drugs and other substances.
  • G6PD deficient babies should continue to be breastfed, but mothers should avoid taking drugs or substances because minute levels may be present in breast milk.
  • Hemolysis can be caused by infection as well.
  • Having a G6PD deficiency can lead to excessive hemolysis in the body, so it’s important to tell your doctor if you or your children have it.
  • Medications that can be administered therapeutically but should be avoided in the diet and herbal remedies–
  • Fava beans
  • Traditional Chinese Medicine such as Chin lin, San Chi, 13 herbs, & 12 herbs
  • Other traditional remedies (ask your doctor)
  • Things to avoid, such as Mothballs & Pyrethrum-laced mosquito coils.

Is there a way to prevent G6PD Deficiency?

Yes, by avoiding drugs and foods that promote hemolysis and getting vaccinated against common diseases.

What to do as a parent to a child’s G6PD deficiency?

Limit the child’s exposure to triggers, and consider joining a support group for information and resources.

Summary

G6PD deficiency is a genetic condition that can cause hemolysis in response to specific triggers, leading to severe complications. However, with early diagnosis and proper management, individuals with G6PD deficiency can lead healthy lives.

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