Glucose-6 Phosphate Dehydrogenase (G6PD) Deficiency: What Parents Need to Know?


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Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic abnormality in which there is inadequate amount of G6PD enzyme in the blood. This condition affects 400 million people worldwide, with high prevalence (5-25 %) in persons of African, Asian, and Mediterranean descent. G6PD deficiency is an X-linked inherited disease that primarily affects men. In other words, women are only affected if they carry two diseased X-linked genes. Otherwise, they remain as carriers of G6PD deficiency if only one X-linked gene is affected.

The enzyme maintains healthy red blood cells and prevents premature destruction of the cells. In patients with G6PD deficiency, their red blood cells break down earlier if triggered. Hemolytic anemia occurs when red blood cells are destroyed faster than the body can replace them. Hence, lesser red blood cells are available to supply oxygen to the organs and tissues. When G6PD deficiency progresses to anemia, it manifests as fatigue, yellowing of the skin and eyes, and shortness of breath. Besides that, other symptoms include rapid heart rate, tea-coloured urine, fever and paleness.

The condition is diagnosed through blood test to determine G6PD enzyme levels. Other tests used to investigate hemolytic anemia are complete blood count, serum hemoglobin test, and a reticulocyte count.

 

Caring for A Child with G6PD Deficiency

Most people with G6PD deficiency never experienced any symptoms. Nevertheless, care should be taken to avoid foods and medications that can trigger symptoms. With proper care, a child with G6PD deficiency can grow up normally like other healthy children.

Generally, these are some common triggers for early break down of red blood cells:

  • Bacterial and viral infections
  • Certain painkillers and fever-lowering drugs
  • Sulfa antibiotics
  • Some antimalarial drugs
  • Fava beans (or broad beans)
  • Naphthalene (a chemical found in mothballs and moth crystals)

 

If the child experiences mild symptoms upon exposure to triggers, medical treatment is usually not required. The body can compensate for anemia by making new blood cells. If the symptoms are caused by an infection, the condition should improve as the infection is treated. However, if severe symptoms are observed, treatment in the hospital might be required. When in doubt, always refer to your doctor for consultation.

 

In Short

G6PD deficiency is a genetic condition that can lead to hemolytic anemia when exposed to triggers. Therefore, care should be taken to avoid certain food and medications. Always inform your doctor or pharmacist if you have G6PD deficiency when pursuing treatment.

If you would like to make an appointment with a General Practitioner:

Find a General Practitioner in Malaysia, on GetDoc

Find a General Practitioner in Singapore, on GetDoc



Joanne Lee

by Joanne Lee

Multipotentialite. Loves creating and seeing ideas come alive. View all articles by Joanne Lee.




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