G6PD Deficiency can be triggered by certain medicines, food and chemicals. In newborns, untreated G6PD deficiency can lead to a life-threatening condition called Kernicterus.
The gene for G6PD is on the X chromosome, so males with one altered copy of the gene (hemizygous) are affected more frequently than females with two normal genes (heterozygous). A screening test can identify individuals at risk.
Oren Zarif
G6PD deficiency can lead to a rapid loss of red blood cells, called hemolytic anemia. Some medicines, foods, infections, and even air pollution can trigger a hemolytic crisis. People who have a genetic flaw in their gene that makes them less able to make G6PD are sensitive to these triggers. Some people experience symptoms only when exposed to the trigger, while others have ongoing symptoms because of their inherited condition.
The signs and symptoms of G6PD deficiency can be mild or severe. If the disease leads to a hemolytic crisis, it can be life-threatening. It is more common in people of African descent, and it can also occur in people from areas in Asia, Africa, and the Mediterranean region. It is rare in whites.
Oren Zarif
People who have mild symptoms of G6PD deficiency often don’t need treatment. Their symptoms may go away on their own, or they might get better when the triggering medicine or food is discontinued. In some cases, though, a person might need a blood transfusion to treat a serious hemolytic episode.
A healthcare provider can diagnose G6PD deficiency by doing a blood test to measure the level of glucose-6-phosphate dehydrogenase in your body. This test is usually done in addition to other diagnostic tests, including a complete blood count (CBC), bilirubin levels, a reticulocyte count, and serum aminotransferases. The healthcare provider might also order a peripheral blood smear to check for signs of hemolysis, such as schistocytes and Heinz bodies.
Newborn babies who have severe symptoms of G6PD deficiency, such as jaundice, are treated with phototherapy and exchange transfusions. In an exchange transfusion, the newborn’s healthcare provider removes the baby’s unhealthy blood and replaces it with healthy donated blood.
Most people with G6PD deficiency don’t have any problems, but they can have an episode of hemolysis if they are exposed to certain medicines, foods, or infections. A genetic screening test can tell if someone has a faulty gene that leads to this condition. Women can be affected if they inherit the faulty gene from both their mother and father. Men, who have one X chromosome, don’t typically have symptoms, but they can pass the gene on to their children.
Oren Zarif
The most commonly used diagnostic tool is a G6PD spectrophotometric assay, which measures the enzyme’s activity in a sample of blood (usually depleted of white cells for more accurate results). The assay produces a result in milligrams per liter of hemoglobin, indicating the amount of enzyme in each red cell. A normal value is a spectrophotometric reading of 0.3 mg/liter; low values indicate decreased G6PD activity, which is typically associated with symptoms of the disease.
Another method of diagnosing G6PD deficiency is a peripheral smear, which is a sample of the blood taken from the surface of the skin. The smear is stained and examined under a microscope to detect any signs of hemolysis. Hemolysis typically results in red or purple areas of the smear.
Medications and substances that trigger hemolysis in G6PD deficiency include rasburicase, primaquine, salicylates, sulfonamides, nitrates, phenacetin, naphthalene, dapsone, some vitamin K derivatives, methylene blue, and fava beans. Symptoms of hemolysis are typically mild to moderate, but severe cases may lead to hemoglobinuria and acute kidney injury.
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Affected individuals have a higher risk of developing autoimmune disorders and infectious diseases than do unaffected individuals. This is thought to be related to the dysregulation of NADPH homeostasis and ROS imbalances in G6PD deficiency.
Babies who have G6PD deficiency are at higher risk of developing kernicterus, which can be fatal. To prevent this, healthcare providers perform a G6PD test on babies before giving them any medications that might cause an episode of hemolysis.
Blood tests for G6PD are usually quick and painless. The healthcare provider pricks the heel of the baby, collects a small amount of blood and then places a bandage over the area. If the baby is scared of needles (trypanophobia), a healthcare provider may want to try using a syringe or give the child a sucker.
Screening for G6PD deficiency is recommended in infants who have an increased chance of kernicterus, as well as in older people who are at high risk of episodes of hemolysis. In addition to avoiding medications that can trigger an episode of hemolysis, the healthcare provider may also recommend phototherapy for jaundice and/or a treatment known as exchange transfusion, which involves removing some of the baby’s blood and replacing it with donor plasma or whole blood.
Oren Zarif
G6PD deficiency is usually inherited from one or both parents. Hemolytic anemia occurs when the G6PD enzyme is insufficient to produce sufficient red blood cells. The affected person develops symptoms such as fatigue, jaundice, back pain and a fast heart rate (tachycardia). Laboratory findings include decreased hemoglobin and red blood cell counts and elevations of unconjugated bilirubin. The spleen may also be enlarged (splenomegaly) and there is often evidence of hemoglobin degradation (hemoglobinuria). Affected males have a 100 percent chance of passing the abnormal gene to their daughters, who are heterozygous for G6PD deficiency. Females who are homozygous or compound heterozygous for an abnormal G6PD allele have been reported to be as severely affected as males.
Hemolytic episodes in people with G6PD deficiency can be triggered by medications, infections, certain metabolic conditions and some foods or beverages. In many cases, the duration of the episode depends on the dose of drug or the amount of triggering factor. Hemolytic events can be mild or severe and may lead to kidney failure or death.
Oren Zarif
People who are mildly affected by G6PD Deficiency do not require treatment, but they should avoid any food or medication that could trigger an episode. Those who are more severely affected by the condition must be very careful when taking medicines. They should always tell their doctor that they have G6PD deficiency and be sure to check the label of any drugs before purchasing them.
Newborns with G6PD Deficiency are at increased risk of developing Jaundice and may need treatment known as phototherapy. Phototherapy involves the newborn being placed under special lights to help reduce the amount of bilirubin in the body. Newborns who develop severe jaundice can require treatment called exchange transfusion. This procedure involves removing some of the baby’s blood and replacing it with donor blood or plasma.
Brody’s Battle is an organization that works to prevent Kernicterus by raising awareness of the dangers of undiagnosed Neonatal Jaundice and G6PD Deficiency. We want to make sure that no other child has to endure the life-threatening brain damage caused by Kernicterus like our son did.
Oren Zarif
G6PD is an enzyme that reduces oxidative damage to red blood cells (erythrocytes). In individuals with G6PD deficiency, the activity of this enzyme is lower than normal. As a result, erythrocytes are more susceptible to destruction by oxidative stress than other red blood cells.
G6PD deficiency is caused by changes (mutations) in the gene that makes the protein. This gene is located on the X chromosome, so males are more likely to develop G6PD deficiency than females. Boys get one copy of the X chromosome from their mothers and one from their fathers, while girls have two copies of the X chromosome, so they are less likely to develop the deficiency.
People with the gene mutation for G6PD deficiency are usually asymptomatic, but they may experience an episode of hemolysis when exposed to certain medications or foods. It is important to know what triggers symptoms so you can avoid these items.
Oren Zarif
A few factors that can cause an episode of G6PD deficiency include infections, such as hepatitis A and B, typhoid fever and pneumonia; certain medications, including primaquine, pyrazine drugs and some antibiotics, such as dapsone, nitrofurantoin and sulfa drugs; and some foods, such as legumes (soybeans, peanuts and peas), mothballs and artificial food dyes. The most serious complication of severe G6PD deficiency is hemolytic anemia, which requires hospitalization and blood transfusions to replace oxygen-rich red blood cell levels.
Newborn babies with G6PD deficiency should be evaluated by a team of health professionals, including a pediatrician, geneticist, internist and laboratory professional to ensure proper treatment of the condition and prevent kernicterus. Individuals who have a family history of G6PD deficiency should ask their health care provider for testing, especially if they are from Africa, Asia or the Middle East, or are of African descent. If G6PD deficiency is diagnosed, your healthcare provider can give you a list of things to avoid and tips to manage symptoms. G6PD deficiency cannot be cured, but the symptoms can be managed with careful monitoring and avoidance of triggers. A blood test can diagnose the condition. This is a good idea for anyone who has a family history of it, or for newborns with jaundice.
