G6PD Deficiency

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G6PD Deficiency is a genetic disorder that occurs mostly in men. This condition affects the red blood cells, which carry oxygen from the lungs to all the body tissues.

In people with G6PD Deficiency, red blood cells break down by themselves prematurely. This is caused by enzyme breakdown called glucose-6-phosphate-dehydrogenase (G6PD). Red blood cell breakdown is also known as hemolysis.

Damaged G6PD enzymes can lead to premature destruction of red blood cells. This condition occurs when the patient is exposed to certain chemicals. In addition, enzyme destruction may also occur when a person has a viral or bacterial infection.

The most commonly associated symptom of G6PD deficiency is hemolytic anemia. This type of anemia occurs due to faster destruction of red blood cells. Hemolytic anemia is also characterized by yellowing of the skin, dark urine, fatigue and shortness of breath.

When a person has G6PD deficiency, hemolytic anemia is caused by a viral or bacterial infection from certain medications. Many patients would not realize that they have G6PD deficiency as the symptoms are not quite visible. 

Causes of G6PD Deficiency

The condition of G6PD enzyme damage occurs due to mutations in the G6PD gene – the gene that provides instructions for making the G6PD enzyme. These enzymes are involved in the normal processing of carbohydrates and protect red blood cells from harmful molecules.

G6PD deficiency is a genetic disorder, meaning it is passed down from parents to children. Apart from enzyme damage, the red blood cells breakdown can also be triggered by several other factors such as:

  • Infections caused by bacteria and viruses.
  • Certain medications, for example antibiotics.
  • Exposure to a compound in camphor called naphthalene.
  • Consumption of fava beans.

When to See a Doctor for G6PD Deficiency?

If you want to consult about the symptoms of G6PD deficiency, you should go see a haematologist. Prior to that, you may first consult a general practitioner.

First, the doctor will ask about your personal and family’s medical history. Since G6PD deficiency is related to anemia, the doctor will check if you have symptoms of anemia, such as yellowing of the skin and enlarged liver or spleen.

Further examination will be done through: 

  • Genetic test, a test performed through blood test to detect changes in chromosomes, genes, and proteins in the body. 
  • Blood count, a test performed by a specialist doctor by counting the complete number of red blood cells, protein, and bilirubin in blood to determine the amount in the patient’s body.

During the consultation, be sure to always inform your doctor about your medical history, physical condition, as well as your diet and sleep patterns.

Symptoms of G6PD Deficiency

In general, visible symptoms of G6PD deficiency include:

  • Shortness of breath
  • Dark-colored, yellow, brown urine
  • Paleness
  • Dizziness
  • Tiredness
  • Rapid increase in heart rate
  • The skin and sclera (white of the eyes) turn yellow

In children with GP6D deficiency, the symptoms are similar. However, children have a limited ability to recognize the symptoms. In some cases, they would not realize it for a considerable period of time. Therefore, parents must pay attention to these symptoms.

Additionally, it is important to pay attention to other symptoms of anemia that are potentially caused by G6PD deficiency.

Treatment for G6PD Deficiency

In certain cases, mild GP6D deficiency can resolve on its own without requiring specific medical treatment. This is because your body has the ability to produce new blood cells.

To treat G6PD deficiency, doctors need to know the symptom triggers. Symptoms may vary from patient to patient.

For example, if a doctor suspects that the G6PD deficiency is caused by certain medications, the doctor will advise the patient to stop consuming said medication and prescribe another medicine.

For children suffering from acute anemia due to G6PD deficiency, the doctor will supply oxygen and fluids as part of the medical treatment. In some cases, paediatric patients may also require transfusions of healthy red blood cells.

Oxygen supply serves to maintain oxygen levels in the blood, while blood transfusions are carried out to replace damaged blood cells.

Treatment Cost for G6PD Deficiency

The cost for G6PD deficiency treatment varies, depending on the patient’s condition and treatment method recommended by the doctor. 

For more information regarding the estimated costs of G6PD deficiency treatment, contact Smarter Health.

Prevention of G6PD Deficiency

There are several factors that could trigger G6PD deficiency symptoms, including: 

  • Being male
  • Being African-American
  • Being of middle Eastern descent
  • Have family members with a similar medical history

G6PD deficiency is also common in children.

G6PD deficiency is a genetic medical condition. That is why it is quite difficult to find ways to prevent one from developing this disease.

However, a simple preventive measure that can be undertaken is by identifying what triggers the symptoms. For example, if the doctor has confirmed that the G6PD deficiency is caused by certain medicines, the doctor will advise the patient to stop consuming them.

Another example of a preventive measure that can be undertaken is by avoiding the factors that cause a person to develop G6PD deficiency, such as consumption of fava beans.

Genetic testing can be done to determine whether you have a family history of G6PD deficiency.

Home Remedies for Patients Diagnosed with G6PD Deficiency

Home remedies for treating G6PD deficiency can be done by stopping or avoiding the factors that trigger the symptoms. It is advised to start a diet of healthy foods and reduce consumption of fava beans. 

Another home remedy is by stopping medications that may risk causing enzyme damage and triggering G6PD deficiency symptoms.

With proper care, G6PD deficiency will not have a significant impact on your daily life.

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