G6PD deficiency is an inherited condition in which the body doesn't have enough of the enzyme glucose-6-phosphate dehydrogenase, or G6PD, which helps red blood cells (RBCs) function normally. This deficiency can cause hemolytic anemia, usually after exposure to certain medications, foods, or even infections. This condition is permanent.
Most people with G6PD deficiency dont't have any symptoms, while others develop symptoms of anemia only after RBCs have been destroyed, a condition called hemolysis. In these cases, the symptoms disappear once the cause, or trigger, is removed. In rare cases, G6PD deficiency leads to chronic anemia.
With the right precautions, a child with G6PD deficiency can lead a healthy and active life.
About G6PD Deficiency
G6PD is one of many enzymes that help the body process carbohydrates and turn them into energy. G6PD also protects red blood cells from potentially harmful byproducts that can accumulate when a person takes certain medications or when the body is fighting an infection.
In people with G6PD deficiency, either the RBCs do not make enough G6PD or what is produced cannot properly function. Without enough G6PD to protect them, RBCs can be damaged or destroyed. Hemolytic anemia occurs when the bone marrow (the soft, spongy part of the bone that produces new blood cells) cannot compensate for this destruction by increasing its production of RBCs.
Causes of G6PD Deficiency
G6PD deficiency is passed along in genes from one or both parents to a child. The gene responsible for this deficiency is on the X chromosome.
G6PD deficiency is most common in African-American males. Many African-American females are carriers of G6PD deficiency, meaning they can pass the gene for the deficiency to their children but do not have symptoms; only a few are actually affected by G6PD deficiency.
G6PD Deficiency Symptom Triggers
Kids with G6PD deficiency typically do not show any symptoms of the disorder until their red blood cells are exposed to certain triggers, which can be:
illness, such as bacterial and viral infections
certain painkillers and fever-reducing drugs
certain antibiotics (especially those that have "sulf" in their names)
certain antimalarial drugs (especially those that have "quine" in their names)
Some kids with G6PD deficiency can tolerate the medications in small amounts; others cannot take them at all. Check with your doctor for more specific instructions, as well as a complete list of medications that could pose a problem for a child with G6PD deficiency.
Other substances can be harmful to kids with this condition when consumed — or even touched — such as fava beans and naphthalene (a chemical found in mothballs and moth crystals). Mothballs can be particularly harmful if a child accidentally swallows one, so ANY contact should be avoided.
禁用: 蚕豆（胡豆）, 珍珠粉, 奈（不接触 臭丸)
Breastfeeding mother should not take any of the above too as the chemicals can reach the baby through breast milk.
Malaria - Primaquine should not be taken by pregnant women or by people who are deficient in G6PD (glucose-6-phosphate dehydrogenase).
Apart from these precautions, your child can live a normal life.
Symptoms of G6PD Deficiency
A child with G6PD deficiency who is exposed to a medication or infection that triggers the destruction of RBCs may have no symptoms at all. In more serious cases, a child may exhibit symptoms of anemia (also known as a hemolytic crisis), including:
paleness (in darker-skinned children paleness is sometimes best seen in the mouth, especially on the lips or tongue)
rapid breathing or shortness of breath
jaundice, or yellowing of the skin and eyes, particularly in newborns
an enlarged spleen
dark, tea-colored urine
Once the trigger is removed or resolved, the symptoms of G6PD deficiency usually disappear fairly quickly, typically within a few weeks.
If symptoms are mild, no medical treatment is usually needed. As the body naturally makes new red blood cells, the anemia will improve. If symptoms are more severe, a child may need to be hospitalized for supportive medical care.
Caring for Your Child
The best way to care for a child with G6PD deficiency is to limit exposure to the triggers of its symptoms. With the proper precautions, G6PD deficiency should not keep your child from living a healthy, active life.
Rarely, kidney failure or death may occur following a severe hemolytic event.
What if my child is G6PD deficient?
Your baby may have to stay in the hospital a little longer for monitoring of Jaundice level.
Women have two X chromosomes. The gene for G6PD deficiency is on only one of your two X chromosomes so you should experience no serious consequences from being a G6PD-deficiency carrier. The same applies to your baby if it is a girl. She should experience no serious consequences from being a G6PD-deficiency carrier.
However, if your baby is a boy, he has a 50% chance of inheriting your X chromosome that bears the G6PD gene (that being his only X) so he will be G6PD deficient. Under certain circumstances, this can cause problems (mainly jaundice in the newborn period and anemia). These can be dealt with effectively as long as both your obstetrician and the pediatrician who will care for your child know in advance about your being a G6PD carrier. You should discuss this matter pronto with your ob and then with your pediatrician. (If you dont't have a pediatrician, maybe your ob can recommend one).