By Penelope A. Domogo, MD
G6PD deficiency is a genetic condition where the body does not make enough of the enzyme G6PD or the enzyme it makes is defective so it doesn’t work properly . I haven’t heard of a case like this in Mountain Province until newborn screening became a routine in 2004. With this newborn screening, a few cases have been detected.
What is G6PD?
G6PD is short for an enzyme called glucose-6-phosphate dehydrogenase. It is an enzyme that helps protect red blood cells from damage, especially when your body is under stress like during infections or when taking certain medicines. Red blood cells carry oxygen throughout your body, and they’re essential for your health.
If someone doesn’t have enough of this enzyme (or it doesn’t work properly), their red blood cells can break apart too easily. This is called hemolysis. When too many red blood cells break down too quickly, it can lead to a condition called hemolytic anemia.
What causes G6PD deficiency?
The gene for G6PD is located in the X chromosome. As a review, when a sperm carrying the X chromosome fertilizes the egg carrying the X chromosome also, then an XX baby is conceived and a girl is born. When the sperm carrying the Y chromosome fertilizes the egg carrying the X chromosome, then an XY baby is conceived and a boy is born.
In G6PD deficiency, this gene is mutated. So this mutated gene can be inherited from one of the parents or the gene can mutate before the baby is conceived. Since males have only one X chromosome, they are more likely to be affected. Females can be carriers and may or may not show symptoms.
Symptoms
Many people with G6PD deficiency never have any symptoms and may not even know they have it. However, symptoms can appear when their body is exposed to certain “triggers.” These may include:
· Certain medicines (like some antibiotics or malaria drugs)
· Infections
· Eating fava beans (also called broad beans)
· Exposure to certain chemicals
When a person with G6PD deficiency is exposed to one of these triggers, he or she may experience signs of hemolytic anemia, such as:
· Tiredness or weakness
· Pale or yellowish skin (jaundice)
· Dark urine
· Shortness of breath
· Rapid heart rate
In babies, especially newborns, it can sometimes cause severe jaundice (seen through yellowing of skin and eyes), which needs medical attention.
How is it diagnosed?
In the Philippines, there is routine newborn mass screening for certain rare conditions like G6PD deficiency. This is paid for by PhilHealth, meaning we are all paying for it. Nothing is free. Another issue here is that since this is just a screening tool, a positive result does not always mean the condition is present. This still needs a confirmatory test in the Research Institute for Tropical Medicine (RITM) in Manila, at the expense of the patient. Thus some positive results are not confirmed.
How is it treated?
Although there is no cure for G6PD deficiency, most people with this condition live normal, healthy lives. Just avoid the triggers mentioned above that cause red blood cell breakdown and be aware of the symptoms of anemia.
If someone does have a reaction, treatment may include rest, hydration, and in severe cases, a blood transfusion.
How is it prevented?
Modern science does not have any answer to how this can be prevented. There are limited studies on this disease. It is observed to be more common in people of African, Middle Eastern and South Asian descent and you know, these countries have other more pressing priorities than research. But common sense will tell us that taking good care of ourselves and our environment will mean a lot to our present and future health.***
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“For the Lord gives wisdom; from his mouth come knowledge and understanding.” Proverbs 2:6
