Also known as:
- Deficiency of glucose-6-phosphate dehydrogenase
Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) is an inherited condition of the blood. Individuals with G6PD deficiency usually show no signs or symptoms of the condition until they are exposed to certain medications, foods or infections. These exposures can trigger the red blood cells, which carry oxygen around the body, to break down prematurely. This early destruction of red blood cells is called hemolysis. If these cells break down more quickly than the body can replace them, it can lead to excess tiredness, shortness of breath, and rapid heart rate. In severe cases, it can even lead to kidney failure or death. Fortunately, symptoms of G6PD deficiency typically disappear once the trigger is recognized and removed. When the condition is identified through newborn screening and properly managed, children with G6PD deficiency often can lead healthy lives.
Your baby’s doctor may ask you if your baby is showing any of the signs of G6PD deficiency (see Early Signs below). If your baby has certain signs, your baby’s doctor may suggest starting immediate treatment.
If your baby’s newborn screening result for Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) was out of the normal range, your baby’s doctor or the state screening program will contact you to arrange for your child to have additional testing. It is important to remember that an out-of-range screening result does not necessarily mean that your child has the condition. An out-of-range result may occur because the initial blood sample was too small or the test was performed too early. However, as a few babies do have the condition, it is very important that you go to your follow-up appointment for a confirmatory test. Because the harmful effects of untreated G6PD deficiency can occur soon after birth, follow-up testing must be completed as soon as possible to determine whether or not your baby has the condition.
Follow-up testing will involve looking at the red blood cells in a sample of your baby’s blood. If your baby has G6PD deficiency, he or she may have a reduced amount of the enzyme, glucose-6-phosphate dehydrogenase, in the red blood cells. Clinical genetic testing for G6PD is available and may be necessary to confirm the diagnosis.
About Glucose-6-phosphate dehydrogenase deficiency
Signs of Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) can begin any time from infancy to adulthood and vary in severity.
Signs of G6PD deficiency include:
- Yellow skin tone (Jaundice)
- Dark urine
- Shortness of breath
- Rapid heart rate
Many of these signs may occur when your baby eats foods, like fava beans, which contain chemicals that cause the red blood cells to break down. They can also be triggered by certain drugs, illnesses, and infections.
If your baby shows any of these signs, be sure to contact your baby’s health care provider immediately.
Your baby may need to be on a restricted diet in order to avoid the chemicals that cause the red blood cells to be destroyed. A dietician or a nutritionist can help you plan a healthy diet for your child.
Supplements and Medications
Individuals with G6PD deficiency may need to avoid certain medications that are routinely prescribed for infections and illness. There are alternative drugs available that won’t cause the destruction of red blood cells.
If your baby has G6PD, he or she may develop repeated infections, especially during childhood. Your baby’s doctor may prescribe a daily dose of antibiotics to help prevent these infections.
If hemolysis occurs, some children with G6PD deficiency may need a blood transfusion because they do not have enough healthy red blood cells. In this procedure, blood from a healthy individual is given to someone with G6PD deficiency.
When Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) is identified early and special precautions are taken, children with the condition can live healthy, symptom-free lives.. This is why newborn screening for G6PD deficiency is so important.
Every cell of the human body needs oxygen. One responsibility of our blood is to bring the oxygen we breathe from our lungs to the different parts of our body. Red blood cells, specifically, are the component of blood that binds and carries oxygen. It is, therefore, very important for our bodies to have an adequate number of red blood cells.
Babies with glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) do not make the enzyme glucose-6-phosphate dehydrogenase (G6PD) properly. This enzyme protects the red blood cells from being destroyed prematurely by harmful substances in the body. This can lead to a condition called anemia, in which there is a very low number of red blood cells in the bloodstream. If there are not enough red blood cells, the body cannot get enough oxygen. This can cause many of the signs mentioned in Early Signs.
G6PD deficiency is an X-linked recessive genetic condition. This means a male must inherit one copy of the non-working gene from his mother to have the condition. A female must inherit two copies of the non-working gene, one from each parent, in order to have the condition. In X-linked conditions, the gene is carried on the X sex chromosome; therefore, the condition affects males more than females. While having a child with G6PD deficiency is rare, when one or both parents carry the non-working gene, they can have more than one child with the condition. Learn more about X-linked recessive inheritance.
Support for Glucose-6-phosphate dehydrogenase deficiency
Support groups can help connect families who have a child or other family member affected with G6PD with a supportive community of people who have experience and expertise in living with the condition. These organizations offer resources for families, affected individuals, health care providers, and advocates.
- G6PD Deficiency Information Website http://g6pddeficiency.org/index.php
- G6PD Deficiency Association http://www.g6pd.org/favism/english/index.mvc
- Children Living with Inheritable Metabolic Diseases (CLIMB) http://www.climb.org.uk/
- National Organization for Rare Disorders http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/774/viewAbstract
Work with your baby’s health care provider to determine the next steps for your baby’s care. Your baby’s doctor may help you coordinate care with a physician that specializes in hematology (blood conditions), a dietician who can help plan your child’s specialized diet, and other medical resources in your community.
Because G6PD is a genetic condition, you may want to talk with a genetics specialist. A genetic counselor or geneticist can help you understand the causes of the condition, discuss genetic testing for G6PD, and understand what this diagnosis means for other family members and future pregnancies. Speak with your baby’s doctor about getting a referral. The Clinic Services Search Engine offered by the National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives and the Find a Genetic Counselor tool on the National Society of Genetic Counselors (NSGC) website are two good resources for you or your baby's health care provider to use to identify local specialists.
States Screening for Glucose-6-phosphate dehydrogenase deficiency
- Medline Plus http://www.nlm.nih.gov/medlineplus/ency/article/000528.htm
- Genetics Home Reference http://ghr.nlm.nih.gov/condition/glucose-6-phosphate-dehydrogenase-deficiency
- OMIM http://omim.org/entry/305900