G6PD deficiency is a condition that affects the red blood cells in the body. G6PD stands for glucose-6-phosphate dehydrogenase. Red blood cells have the important job of carrying oxygen throughout the body. If a blood cell has too much oxygen, however, it can harm the cell. G6PD helps to protect the cell from these harmful effects. If someone doesn’t have enough G6PD, the red blood cells are unprotected and can break down too early (this is called hemolysis). Hemolysis can lead to anemia (low blood levels). Anemia can cause a number of different issues such as shortness of breath, rapid heart rate, muscle pain, jaundice, and heart attacks. The majority of the time, the anemia in G6PD deficiency is caused by an environmental trigger, such as an infection, certain medications, or eating fava beans. It is possible for someone to have G6PD deficiency and not develop anemia, because they have not been exposed to these triggers.
G6PD deficiency has other, names such as:
Glucose-6-phosphate dehydrogenase deficiency
Hemolytic anemia due to G6PD deficiency
G6PDD
Nonspherocytic hemolytic anemia due to G6PD
As of 2018, it is estimated that 400 million people are affected with G6PD deficiency worldwide. In the U.S., it is estimated to affect 1 in 10 African American males. G6PD deficiency is more commonly found in African, Asian, Mediterranean, and Middle Eastern populations. G6PD deficiency is believed to help protect people against malaria, and these areas of the world are prone to outbreaks of malaria. Due to its method of inheritance, G6PD deficiency is almost always seen in males.
G6PD stands for glucose-6-phosphate dehydrogenase. G6PD deficiency is having less of the enzyme glucose-6-phosphate dehydrogenase than usual. Sometimes, G6PD deficiency is abbreviated as G6PDD.
G6PD deficiency is a condition that affects the red blood cells in your body. If someone doesn’t have enough of G6PD (an enzyme in the body), the red blood cells can break down prematurely (hemolysis), which can lead to anemia (low levels of blood). Anemia can cause a number of different issues such as shortness of breath, rapid heart rate, muscle pain, jaundice, and heart attacks. The majority of the time, the anemia in G6PD deficiency is caused by an environmental trigger, such as an infection, certain medications, or eating fava beans. It is possible for someone to have G6PD deficiency and not develop anemia, because they have not been exposed to these environmental triggers.
G6PD deficiency is considered a metabolic and a blood disease. A metabolic disease is one where symptoms happen in a person because of the way food or drink is being broken down by their body. A blood disease is one that affects the make up of the blood or how it works. Red blood cells have the important job of carrying oxygen throughout the body. If a blood cell has too much oxygen, however, it can harm the cell. G6PD, an enzyme in the body, helps to protect the cell from these harmful effects. If someone doesn’t have enough G6PD, the red blood cells are unprotected and can break down prematurely (hemolysis). Hemolysis can lead to anemia (low blood levels), which can cause a number of different health issues.
As of 2018, G6PD deficiency is more commonly found in African, Asian, Mediterranean, and Middle Eastern populations. G6PD deficiency is believed to help protect people against malaria, and these areas of the world are prone to outbreaks of malaria. Due to its method of inheritance, G6PD deficiency is almost always seen in males.
Frequently Asked Questions About Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Why does G6PD deficiency cause anemia?
G6PD deficiency is caused by changes (mutations) to the G6PD gene. The G6PD gene has instructions on how to make the enzyme glucose-6-phosphate dehydrogenase (G6PD).
The G6PD enzyme helps turn carbohydrates into a molecule known as NADPH. NADPH helps protect cells from the harmful effects of having too much oxygen. Since red blood cells are in charge of transporting oxygen from the lungs to the rest of the body, they need a lot of NADPH to protect them. Someone who has a change in the G6PD gene doesn’t make enough G6PD enzyme and NADPH. Without enough NADPH, the red blood cells are unprotected and can break down prematurely (hemolysis). Hemolysis can lead to anemia (low blood levels), which can cause a number of different health issues.
If you would like to learn more about the genetics of G6PD deficiency, or have it in your family, speak to your doctor about a referral to see a genetic counselor. In the U.S., you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors website.
Who else in my family should have testing for G6PD deficiency?
If you have been diagnosed with G6PD deficiency, it is helpful to share your genetic test results with your family. G6PD deficiency is caused by mutations in the G6PD gene, which causes it to work differently than it should.
G6PD deficiency is inherited in what is called an X-linked recessive manner. The G6PD gene is located on the X chromosome. Women have two X chromosomes, while men have an X and a Y chromosome. This means that women have two copies of G6PD, while men only have one copy of G6PD. A man needs only one G6PD gene mutation to have symptoms of G6PD deficiency. A woman needs two G6PD gene mutations to have symptoms of G6PD deficiency. Since this happens very rarely, women rarely have symptoms of G6PD deficiency.
However, a woman can have genetic testing because she can be a carrier of a G6PD gene mutation. She has a 50% random chance of passing down that mutation to her children, regardless of the child’s gender. If a boy inherits the mutation, he will develop G6PD deficiency. If a girl inherits the mutation, she will be a carrier, like her mother. A man who has G6PD deficiency cannot pass down the gene mutation to his sons, but he will pass it down to all of his daughters. If the daughter inherits a mutation from her father and a mutation from her mother, she will also develop symptoms of G6PD deficiency.
Sharing genetic testing results with family members can help others get genetic testing themselves, if they wish to have it. An early diagnosis of G6PD deficiency means that necessary medical precautions can be taken, to avoid complications from anemia or other symptoms.
If you would like to learn more about genetic testing for G6PD deficiency, speak to your doctor about a referral to see a geneticist or a genetic counselor. In North America, you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors website.
What type of sample should be taken for G6PD deficiency genetic testing?
As of 2018, there is genetic testing available for G6PD deficiency. If you have symptoms and/or a family history of G6PD deficiency, a genetic counselor or a geneticist can usually order a genetic test for you. You can give blood or saliva, although there are other less commonly used samples that can be used to test your DNA. The sample is sent to be tested at a laboratory. The test will check to see if there are any changes (or mutations) in the G6PD gene that could cause it to not work properly. The genetic counselor will receive the results and explain to you what they mean in detail. It is possible that the testing will not detect a gene mutation.
Another way to test for G6PD deficiency is through an enzyme analysis. This analysis will require a blood sample. the laboratory will check the levels of the G6PD enzyme in the blood. If the levels are less than 60%, the individual may have G6PD deficiency. It is often followed by a genetic test.
If you would like to learn more about testing for G6PD deficiency, or have it in your family, speak to your doctor about a referral to see a geneticist or a genetic counselor. In the U.S., you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors website.
What treatment can help the symptoms of G6PD deficiency from getting worse?
The main way to prevent symptoms of G6PD deficiency from getting worse is to avoid the environmental triggers that can cause hemolytic anemia. Hemolytic anemia is when an individual has low amounts of red blood cells because their red blood cells have started to break down too early. This can be triggered by infections, certain medications, and certain foods such as fava beans. Avoiding these triggers, and treating infections promptly can help prevent the development of anemia. If there are too few red blood cells in the body, the person may have to have a blood transfusion to restore the number of red blood cells in the bloodstream.
If you have symptoms or would like to learn more about the genetics of G6PD deficiency, speak to your doctor about a referral to see a medical geneticist or a genetic counselor. In the U.S., you can find a medical geneticist at https://www.acmg.net/ACMG/Find_Genetic_Services/ACMG/ISGweb/FindaGeneticService.aspx?hkey=720856ab-a827-42fb-a788-b618b15079f9 on the American College of Medical Genetics and Genomics (ACMG) website. In the U.S., you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors (NSGC) website.
What is the usual abbreviation for G6PD deficiency?
G6PD stands for glucose-6-phosphate dehydrogenase. G6PD deficiency is having less of the enzyme glucose-6-phosphate dehydrogenase than usual. Sometimes, G6PD deficiency is abbreviated as G6PDD.
What is G6PD deficiency?
G6PD deficiency is a condition that affects the red blood cells in the body. G6PD stands for glucose-6-phosphate dehydrogenase. Red blood cells have the important job of carrying oxygen throughout the body. If a blood cell has too much oxygen, however, it can harm the cell. G6PD helps to protect the cell from these harmful effects. If someone doesn’t have enough G6PD, the red blood cells are unprotected and can break down too early (this is called hemolysis). Hemolysis can lead to anemia (low blood levels). Anemia can cause a number of different issues such as shortness of breath, rapid heart rate, muscle pain, jaundice, and heart attacks. The majority of the time, the anemia in G6PD deficiency is caused by an environmental trigger, such as an infection, certain medications, or eating fava beans. It is possible for someone to have G6PD deficiency and not develop anemia, because they have not been exposed to these triggers.
What health problems should I look for in G6PD deficiency?
The main health concern for people with G6PD deficiency is the development of anemia. Anemia is a condition where the person has a very low amount of blood in their body. Some symptoms of anemia to look for include shortness of breath, increased heart rate, muscle pain, fatigue, heart attacks, and dark colored urine. Jaundice is common in newborns but it can also be seen in children and, in rare cases, adults. Jaundice is when the skin and eyes become pale or slightly yellow.
It is possible for someone with G6PD deficiency to not have anemia. The majority of the time, the anemia is triggered by environmental causes. These include certain types of infections, certain types of medications, eating fava beans, and fava pollen. It is important for all individuals with G6PD deficiency to avoid these triggers.
If you have these symptoms or you would like to learn more about the genetics of G6PD deficiency, speak to your doctor about a referral to see a medical geneticist or a genetic counselor. In the U.S., you can find a medical geneticist at https://www.acmg.net/ACMG/Find_Genetic_Services/ACMG/ISGweb/FindaGeneticService.aspx?hkey=720856ab-a827-42fb-a788-b618b15079f9 on the American College of Medical Genetics and Genomics (ACMG) website. In the U.S., you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors (NSGC) website.
What health problems are part of G6PD deficiency?
G6PD deficiency is a condition that affects the red blood cells in your body. If someone doesn’t have enough of G6PD (an enzyme in the body), the red blood cells can break down prematurely (hemolysis), which can lead to anemia (low levels of blood). Anemia can cause a number of different issues such as shortness of breath, rapid heart rate, muscle pain, jaundice, and heart attacks. The majority of the time, the anemia in G6PD deficiency is caused by an environmental trigger, such as an infection, certain medications, or eating fava beans. It is possible for someone to have G6PD deficiency and not develop anemia, because they have not been exposed to these environmental triggers.
What gene change causes G6PD deficiency?
G6PD deficiency is caused by changes (mutations) to the G6PD gene. The G6PD gene has instructions on how to make the enzyme glucose-6-phosphate dehydrogenase (G6PD).
Red blood cells have the important job of carrying oxygen throughout the body. If the blood cell has too much oxygen, however, it can harm the cell. G6PD helps to protect the cell from these harmful effects. If someone doesn’t have enough G6PD, the red blood cells are unprotected and can break down prematurely (hemolysis).
Hemolysis can lead to anemia (low blood levels), which can cause a number of different health issues.
If you would like to learn more about the genetics of G6PD deficiency, or have it in your family, speak to your doctor about a referral to see a genetic counselor. In the U.S., you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors website.
What does it mean to have inherited a variant in the gene for G6PD deficiency?
The genetic test for G6PD deficiency looks for changes (or mutations) in the G6PD gene. When there is a mutation in the G6PD gene, the individual has a high chance of developing anemia (low blood levels).
When someone has genetic testing for G6PD deficiency, there can usually be three types of results:
What are the symptoms of anemia in G6PD deficiency?
Individuals with G6PD deficiency can develop hemolytic anemia (low levels of red blood cells in the blood). This type of anemia develops when the red blood cells break down (hemolysis), which happens too early in G6PD deficiency. This can lead to different health issues including shortness of breath, increased heart rate, muscle pain, fatigue, heart attacks, and dark colored urine. Jaundice is more likely to occur in children (specifically newborns); however, it has been observed in some adults. Women are more likely to develop jaundice than men. Jaundice is when the skin and eyes become pale or slightly yellow.
It is possible for someone with G6PD deficiency to not have anemia. The majority of the time, the anemia is triggered by environmental causes. These include certain types of infections, certain types of medications, eating fava beans, and fava pollen. It is important for all individuals with G6PD deficiency to avoid these triggers.
If you have these symptoms or you would like to learn more about the genetics of G6PD deficiency, speak to your doctor about a referral to see a medical geneticist or a genetic counselor. In the U.S., you can find a medical geneticist at https://www.acmg.net/ACMG/Find_Genetic_Services/ACMG/ISGweb/FindaGeneticService.aspx?hkey=720856ab-a827-42fb-a788-b618b15079f9 on the American College of Medical Genetics and Genomics (ACMG) website. In the U.S., you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors (NSGC) website.
What are the main types of symptoms of G6PD deficiency in adults?
Adults with G6PD deficiency can develop hemolytic anemia (low levels of red blood cells in the blood). This type of anemia develops when the red blood cells break down (hemolysis), which happens too early in G6PD deficiency. This can lead to different health issues including shortness of breath, increased heart rate, muscle pain, fatigue, heart attacks, and dark colored urine. Jaundice is more likely to occur in children, however it has been observed in some adults. Women are more likely to develop jaundice than men. Jaundice is when the skin and eyes become pale or slightly yellow.
Just like in children, the anemia in G6PD deficiency can be triggered by environmental causes. These include certain types of infections, certain types of medications, eating fava beans, and fava pollen. It is important for all individuals with G6PD deficiency to avoid these triggers.
If you have these symptoms or you would like to learn more about the genetics of G6PD deficiency, speak to your doctor about a referral to see a medical geneticist or a genetic counselor. In the U.S., you can find a medical geneticist at https://www.acmg.net/ACMG/Find_Genetic_Services/ACMG/ISGweb/FindaGeneticService.aspx?hkey=720856ab-a827-42fb-a788-b618b15079f9 on the American College of Medical Genetics and Genomics (ACMG) website. In the U.S., you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors (NSGC) website.
What are the main symptoms of G6PD deficiency?
Individuals with G6PD deficiency can develop hemolytic anemia (low levels of red blood cells in the blood). This type of anemia develops when the red blood cells break down (hemolysis), which happens too early in G6PD deficiency. This can lead to different health issues including shortness of breath, increased heart rate, muscle pain, fatigue, heart attacks, and dark colored urine. Jaundice is more likely to occur in children (specifically newborns), however it has been observed in some adults. Women are more likely to develop jaundice than men. Jaundice is when the skin and eyes become pale or slightly yellow.
It is possible for someone with G6PD deficiency to not have anemia. The majority of the time, the anemia is triggered by environmental causes. These include certain types of infections, certain types of medications, eating fava beans, and fava pollen. It is important for all individuals with G6PD deficiency to avoid these triggers.
If you have these symptoms or you would like to learn more about the genetics of G6PD deficiency, speak to your doctor about a referral to see a medical geneticist or a genetic counselor. In the U.S., you can find a medical geneticist at https://www.acmg.net/ACMG/Find_Genetic_Services/ACMG/ISGweb/FindaGeneticService.aspx?hkey=720856ab-a827-42fb-a788-b618b15079f9 on the American College of Medical Genetics and Genomics (ACMG) website. In the U.S., you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors (NSGC) website.
What are the main symptoms of G6PD deficiency in children?
Children with G6PD deficiency can develop hemolytic anemia (low levels of red blood cells in the blood). This type of anemia develops when the red blood cells break down (hemolysis), and it happens too early in G6PD deficiency. This can lead to different health issues. Children can develop jaundice, although it is most frequently seen in newborns. Jaundice is when the skin and eyes are pale or slightly yellow. Other health issues include shortness of breath, increased heart rate, muscle pain, fatigue, and dark colored urine.
The anemia in G6PD deficiency can be triggered by environmental causes. These include certain types of infections, certain types of medications, and eating fava beans or fava pollen. It is important for children with G6PD deficiency to avoid these triggers.
If your child has these symptoms or you would like to learn more about the genetics of G6PD deficiency, speak to your doctor about a referral to see a medical geneticist or a genetic counselor. In the U.S., you can find a medical geneticist at https://www.acmg.net/ACMG/Find_Genetic_Services/ACMG/ISGweb/FindaGeneticService.aspx?hkey=720856ab-a827-42fb-a788-b618b15079f9 on the American College of Medical Genetics and Genomics (ACMG) website. In the U.S., you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors (NSGC) website.
What are the first steps after a diagnosis of G6PD deficiency is made?
When someone is diagnosed with G6PD deficiency, they often go for some tests. It is important to have blood tests to check for anemia and to check the levels of G6PD enzyme in the blood. Overall, these first tests are done so that doctors can know if the symptoms are there, and to what extent. It is also important to learn what makes G6PD deficiency worse. There are some environmental triggers that can cause an individual with G6PD deficiency to develop anemia. These triggers include infections, certain medications, eating fava beans, and fava pollen.
If you have symptoms or would like to learn more about the genetics of G6PD deficiency, speak to your doctor about a referral to see a medical geneticist or a genetic counselor. In the U.S., you can find a medical geneticist at https://www.acmg.net/ACMG/Find_Genetic_Services/ACMG/ISGweb/FindaGeneticService.aspx?hkey=720856ab-a827-42fb-a788-b618b15079f9 on the American College of Medical Genetics and Genomics (ACMG) website. In the U.S., you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors (NSGC) website.
Is there treatment for G6PD deficiency?
As of 2018, the U.S. FDA has not approved any treatment for G6PD deficiency. The best way to manage G6PD deficiency is to prevent the development of hemolytic anemia. Hemolytic anemia is when someone has a very low amount of red blood cells in their body because of the breakdown of red blood cells (hemolysis) too early. Anemia can be triggered by environmental causes such as an infection, certain medications, eating fava beans, and fava pollen. Staying away from such triggers can help reduce the likelihood of anemia in G6PD deficiency. Management includes treating infections immediately, and having blood transfusions to restore the number of red blood cells. It is important to stop taking medicines that can cause hemolysis, such as rasburicase (called Elitek in the U.S. and Fasturtec in Europe). The U.S. FDA has specifically indicated that rasburicase makes G6PD deficiency symptoms worse.
If you have symptoms or would like to learn more about the genetics of G6PD deficiency, speak to your doctor about a referral to see a medical geneticist or a genetic counselor. In the U.S., you can find a medical geneticist at https://www.acmg.net/ACMG/Find_Genetic_Services/ACMG/ISGweb/FindaGeneticService.aspx?hkey=720856ab-a827-42fb-a788-b618b15079f9 on the American College of Medical Genetics and Genomics (ACMG) website. In the U.S., you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors (NSGC) website.
Is there newborn testing for G6PD deficiency?
As of 2018, the U.S. does not have mandatory newborn screening across all states for G6PD deficiency. A couple of states test for it. If a baby is born into a family with G6PD deficiency, or is otherwise suspected to have G6PD deficiency, he or she can have the same kind of testing that is offered to adults. That test will look to see if there are any mutations in the baby’s G6PD gene. If the family mutation is known, the laboratory can look specifically for that mutation.
If you would like to learn more about testing for G6PD deficiency, or have it in your family, speak to your doctor about a referral to see a geneticist or a genetic counselor. In North America, you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors website.
Is there more than one test for G6PD deficiency?
As of 2018, there are a few ways to test for G6PD deficiency.:
Is G6PD deficiency more common in some parts of the world?
As of 2018, G6PD deficiency is more commonly found in African, Asian, Mediterranean, and Middle Eastern populations. G6PD deficiency is believed to help protect people against malaria, and these areas of the world are prone to outbreaks of malaria. Due to its method of inheritance, G6PD deficiency is almost always seen in males.
Is G6PD deficiency a metabolic disease?
G6PD deficiency is considered a metabolic and a blood disease. A metabolic disease is one where symptoms happen in a person because of the way food or drink is being broken down by their body. A blood disease is one that affects the make up of the blood or how it works. Red blood cells have the important job of carrying oxygen throughout the body. If a blood cell has too much oxygen, however, it can harm the cell. G6PD, an enzyme in the body, helps to protect the cell from these harmful effects. If someone doesn’t have enough G6PD, the red blood cells are unprotected and can break down prematurely (hemolysis). Hemolysis can lead to anemia (low blood levels), which can cause a number of different health issues.
I have G6PD deficiency. Will my children have it?
G6PD deficiency is inherited in an X-linked recessive manner. The gene that causes G6PD deficiency (G6PD) is located on the X chromosome. The X chromosome is one of the sex chromosomes, which help determine our biological sex. Women have two X chromosomes, while men have an X and a Y chromosome. This means that women have two copies of G6PD, while men only have on copy of G6PD. A man needs only G6PD gene mutation to have symptoms of G6PD deficiency. A woman needs two G6PD gene mutations to have symptoms of G6PD deficiency. Since this happens very rarely, it is far more common for men to have G6PD deficiency than women.
A woman can be a carrier for a G6PD gene mutation, meaning that she only has one mutation. She may or may not show symptoms of the condition. However, she has a 50% random chance of passing down that mutation to her children, regardless of the child’s gender. If a boy inherits the mutation, he will develop G6PD deficiency. If a girl inherits the mutation, she will be a carrier, like her mother. A man who has G6PD deficiency cannot pass down the gene mutation to his sons, but he will pass it down to all of his daughters. If the daughter inherits a mutation from her father and a mutation from her mother, she will also develop G6PD deficiency.
If you would like to learn more about the genetics of G6PD deficiency, or have it in your family, speak to your doctor about a referral to see a genetic counselor. In the U.S., you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors website.
How is G6PD deficiency inherited?
G6PD deficiency is inherited in what is called an X-linked recessive manner. The gene that causes G6PD deficiency (G6PD) is located on the X chromosome. The X chromosome is one of the sex chromosomes, which help determine our biological gender. Women have two X chromosomes, while men have an X and a Y chromosome. This means that women have two copies of G6PD, while men only have one copy of G6PD. A man needs only one G6PD gene mutation to have symptoms of G6PD deficiency. A woman needs two G6PD gene mutations to have symptoms G6PD deficiency. Since this happens very rarely, women rarely have signs or symptoms of G6PD deficiency.
A woman can be a carrier for a G6PD gene mutation, meaning that she only has one mutation. She may or may not show symptoms of the condition. However, she has a 50% random chance of passing down that mutation to her children, regardless of the child’s gender. If a boy inherits the mutation, he will develop G6PD deficiency. If a girl inherits the mutation, she will be a carrier, like her mother. A man who has G6PD deficiency cannot pass down the gene mutation to his sons, but he will pass it down to all of his daughters. If the daughter inherits a mutation from her father and a mutation from her mother, she will also develop G6PD deficiency.
If you would like to learn more about the genetics of G6PD deficiency, or have it in your family, speak to your doctor about a referral to see a genetic counselor. In the U.S., you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors website.
How do they make a diagnosis of G6PD deficiency?
As of 2018, there is genetic testing available to diagnose G6PD deficiency. If you have symptoms and/or a family history of G6PD deficiency, a genetic counselor or a geneticist can usually order a genetic test for you. You can give blood or saliva, although there are other samples that can be used to test your DNA (less commonly). The sample is sent to a laboratory that will study your DNA in detail. The test will usually check to see if there are any changes (or mutations) in the G6PD gene (or other rare genes) that could cause it to not work properly. The genetic counselor will receive the results and explain to you what they mean in detail. It is possible that the testing will not find a gene mutation. In such cases, the diagnosis will be based on the person’s symptoms.
Another way to test for G6PD deficiency is through an enzyme analysis. The analysis will check to see the levels of the G6PD enzyme in the blood. If the levels are less than 60%, the individual may have G6PD deficiency. It is often followed by a genetic test.
If you would like to learn more about testing for G6PD deficiency, or have it in your family, speak to your doctor about a referral to see a geneticist or a genetic counselor. In the U.S., you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors website.
How do I get tested for G6PD deficiency?
As of 2018, there is genetic testing available for G6PD deficiency. If you have symptoms and/or a family history of G6PD deficiency, a genetic counselor or a geneticist can usually order a genetic test for you. You can give blood or saliva, although there are other samples that can be used to test your DNA (less commonly). The sample is sent to a laboratory that will study your DNA in detail. The test will check to see if there are any changes (or mutations) in the G6PD gene (or other rare genes) that could cause it to not work properly. The genetic counselor will receive the results and explain to you what they mean in detail. It is possible that the testing will not find a gene mutation.
Another way to test for G6PD deficiency is through an enzyme analysis. The analysis will check the levels of the G6PD enzyme in the blood. If the levels are less than 60%, the individual may have G6PD deficiency. It is best to follow up with a genetic test.
If you would like to learn more about testing for G6PD deficiency, or have it in your family, speak to your doctor about a referral to see a geneticist of a genetic counselor. In North America, you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors website.
How common is G6PD deficiency?
As of 2018, it is estimated that 400 million people are affected with G6PD deficiency worldwide. In the U.S., it is estimated to affect 1 in 10 African American males. G6PD deficiency is more commonly found in African, Asian, Mediterranean, and Middle Eastern populations. G6PD deficiency is believed to help protect people against malaria, and these areas of the world are prone to outbreaks of malaria. Due to its method of inheritance, G6PD deficiency is almost always seen in males.
Does everyone with G6PD deficiency have a gene mutation?
G6PD deficiency is caused by a change (mutation) in the G6PD gene. The G6PD gene contains instructions for the G6PD enzyme. A mutation in the G6PD gene will cause the person to have less of a working G6PD enzyme. Not everyone with a G6PD mutation will develop the same level of G6PD deficiency. People can range from being 10-60% deficient in the G6PD enzyme. This means that not everyone with G6PD deficiency will show the same symptoms, or to the same degree.
It is also important to note that even if someone is diagnosed with G6PD deficiency, they may not develop anemia. The majority of the time, the anemia in G6PD deficiency is caused by an environmental trigger, such as an infection, certain medications, or eating fava beans. It is possible for someone to have G6PD deficiency and not develop anemia, because they have not been exposed to these triggers.
If you would like to learn more about the genetics of G6PD deficiency, or have it in your family, speak to your doctor about a referral to see a genetic counselor. In the U.S., you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors website.
Does anything make G6PD deficiency worse?
People with G6PD enzyme deficiency have a risk of developing hemolytic anemia (low levels of red blood cells in their blood). This type of anemia is caused when the red blood cells break down (hemolysis), which can happen too early in G6PD deficiency. Not everyone with G6PD deficiency will develop anemia. The majority of the time, the anemia is caused by an environmental trigger, such as an infection, certain medications, or eating fava beans. These environmental triggers increase the amount of reactive oxygen species in the red blood cells. Reactive oxygen species are natural products of normal cellular functions and can be harmful if not properly removed. G6PD enzyme helps to remove the reactive oxygen species and protect the red blood cells. Someone with G6PD deficiency cannot remove the reactive oxygen species well, and the blood cells can break down.
It is possible for someone to have G6PD deficiency and not develop anemia, because they have not been exposed to environmental triggers. Avoiding these environmental triggers will help someone with G6PD deficiency avoid developing anemia.
If you would like to learn more about the genetics of G6PD deficiency, or have it in your family, speak to your doctor about a referral to see a geneticist of a genetic counselor. In the U.S., you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors website.
Can my child still have G6PD deficiency without having a G6PD gene mutation?
G6PD deficiency is caused by changes (mutations) in the G6PD gene. Men who have a G6PD gene mutation will develop symptoms of G6PD deficiency at some point. Women who have two G6PD gene mutations will also develop symptoms of G6PD deficiency at some point. The greater majority of affected individuals has mutations in the G6PD gene. Very rarely, G6PD deficiency is caused by mutations in other rare genes. It is possible that the gene mutation that’s causing the symptoms may not be found by genetic testing. In this case, a diagnosis is made based on symptoms after a physical examination with a doctor.
Not everyone with a G6PD mutation will have deficiency of G6PD to the same degree. People can range from being 10-60% deficient in the G6PD enzyme. This means that different people with G6PD deficiency will show the different symptoms, and some may be milder than others.
It is also important to note that even if someone is diagnosed with G6PD deficiency, they may not develop anemia. The majority of the time, the anemia is caused by an environmental trigger, such as an infection, certain medications, or eating fava beans. It is possible for someone to have G6PD deficiency and not develop anemia, because they have not been exposed to these environmental triggers.
If you would like to learn more about the genetics of G6PD deficiency, or have it in your family, speak to your doctor about a referral to see a genetic counselor. In the U.S., you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors website.
Are there things to avoid if you have G6PD deficiency?
People who have G6PD deficiency are at risk of developing hemolytic anemia. Hemolytic anemia happens when the red blood cells start to break down too early, leaving too few in the blood and body. The main way to prevent this is to avoid the environmental triggers that can cause hemolytic anemia. Triggers include infections, certain medications, and eating certain foods such as fava beans. Avoiding these triggers, and treating infections promptly can help prevent the development of anemia.
If you have symptoms or would like to learn more about the genetics of G6PD deficiency, speak to your doctor about a referral to see a medical geneticist or a genetic counselor. In the U.S., you can find a medical geneticist at https://www.acmg.net/ACMG/Find_Genetic_Services/ACMG/ISGweb/FindaGeneticService.aspx?hkey=720856ab-a827-42fb-a788-b618b15079f9 on the American College of Medical Genetics and Genomics (ACMG) website. In the U.S., you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors (NSGC) website.
Are there other names for G6PD deficiency?
G6PD deficiency has other, names such as:
Are there any typical symptoms of G6PD deficiency that are "odd" or "unique"?
G6PD deficiency can cause anemia. However, unlike most causes of anemia, G6PD deficiency anemia is triggered by the environment. These environmental triggers include certain types of infections, certain types of medications, eating fava beans, and fava pollen. Someone with G6PD deficiency can avoid developing anemia by avoiding these environmental triggers. This means that the anemia can be preventable, and that is somewhat unique.
If you have these symptoms or you would like to learn more about the genetics of G6PD deficiency, speak to your doctor about a referral to see a medical geneticist or a genetic counselor. In the U.S., you can find a medical geneticist at https://www.acmg.net/ACMG/Find_Genetic_Services/ACMG/ISGweb/FindaGeneticService.aspx?hkey=720856ab-a827-42fb-a788-b618b15079f9 on the American College of Medical Genetics and Genomics (ACMG) website. In the U.S., you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors (NSGC) website.
Any other diseases that look a lot like G6PD deficiency?
The major symptom of G6PD deficiency is hemolytic anemia. Anemia is when someone has a very low amount of blood in their body. Hemolytic anemia develops when the red blood cells break down (hemolysis). The majority of the time, the anemia in G6PD deficiency is triggered by environmental causes. These include certain types of infections, certain types of medications, eating fava beans, and fava pollen. If someone who has G6PD deficiency is exposed to these triggers, they could develop anemia. However, it is possible that doctors may attribute the cause of the anemia to something other than G6PD deficiency. Some autoimmune disorders and other conditions may also cause hemolytic anemia, such as lupus and leukemia.
If you have these symptoms or you would like to learn more about the genetics of G6PD deficiency, speak to your doctor about a referral to see a medical geneticist or a genetic counselor. In the U.S., you can find a medical geneticist at https://www.acmg.net/ACMG/Find_Genetic_Services/ACMG/ISGweb/FindaGeneticService.aspx?hkey=720856ab-a827-42fb-a788-b618b15079f9 on the American College of Medical Genetics and Genomics (ACMG) website. In the U.S., you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors (NSGC) website.
