Many females of African heritage are carriers of G6PD deficiency. This means that they can pass the gene for the deficiency to their children but do not have symptoms. G6PD deficiency often isn't found until a child gets symptoms. If doctors suspect G6PD deficiency, blood tests usually can confirm the diagnosis and rule out other causes of anemia. If you worry that your child might have G6PD deficiency, talk to your doctor about a screening test to check for it.
Treating G6PD deficiency symptoms is usually as simple as removing the trigger. Often, this means treating the infection or stopping the use of a drug. A child with severe anemia may need treatment in the hospital to get oxygen and fluids. Sometimes, a child also needs a transfusion of healthy blood cells.
G6PD deficiency is inherited in an X-linked recessive manner. Females have two X chromosomes , so if they have a mutation on one of them, they still have one X chromosome without the mutation.
Females with one X chromosome mutation are known as carriers and are usually unaffected. However, females can be affected if they have a mutation in both copies of the G6PD gene , or in some cases, if they have only one mutation. There is nothing either parent can do, before or during a pregnancy, to cause a child to have this condition.
Diagnosis Diagnosis. Newborn Screening Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine. National Newborn Screening and Global Resource Center NNSGRC provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.
Treatment Treatment. The most important aspect of management for G6PD deficiency is to avoid agents that might trigger an attack. In cases of acute hemolytic anemia , a blood transfusion or even an exchange transfusion may be required.
They also maintain a list of low risk drugs that are generally safe to take in low doses. Management Guidelines Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
Find a Specialist Find a Specialist. Healthcare Resources To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. You can also learn more about genetic consultations from MedlinePlus Genetics. Research Research.
Clinical Research Resources ClinicalTrials. Click on the link to go to ClinicalTrials. Please note: Studies listed on the ClinicalTrials. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
Organizations Organizations. Organizations Supporting this Disease. Do you know of an organization? Learn More Learn More. Where to Start MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
MedlinePlus Genetics contains information on Glucosephosphate dehydrogenase deficiency. This website is maintained by the National Library of Medicine. NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases. A reduction in the amount of functional glucosephosphate dehydrogenase appears to make it more difficult for this parasite to invade red blood cells.
Glucosephosphate dehydrogenase deficiency occurs most frequently in areas of the world where malaria is common. Glucosephosphate dehydrogenase is inherited in an X-linked pattern.
A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome , one of the two sex chromosomes in each cell. Males have only one X chromosome and females have two copies of the X chromosome. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
In females, who have two copies of the X chromosome, one altered copy of the G6PD gene in each cell can lead to less severe features of the condition or may cause no signs or symptoms at all. However, many females with one altered copy of this gene have glucosephosphate dehydrogenase deficiency similar to affected males because the X chromosome with the normal copy of the G6PD gene is turned off through a process called X-inactivation. Early in embryonic development in females, one of the two X chromosomes is permanently inactivated in somatic cells cells other than egg and sperm cells.
X-inactivation ensures that females, like males, have only one active copy of the X chromosome in each body cell. Usually X-inactivation occurs randomly, such that each X chromosome is active in about half of the body cells. Sometimes X-inactivation is not random, and one X chromosome is active in more than half of cells.
When X-inactivation does not occur randomly, it is called skewed X-inactivation. Research shows that females with glucosephosphate dehydrogenase deficiency caused by mutation of the G6PD gene often have skewed X-inactivation, which results in the inactivation of the X chromosome with the normal copy of the G6PD gene in most cells of the body.
This skewed X-inactivation causes the chromosome with the mutated G6PD gene to be expressed in more than half of cells. G6PD is also responsible for keeping red blood cells healthy so they can function properly and live a normal life span. Without enough of it, red blood cells break down prematurely.
This early destruction of red blood cells is known as hemolysis , and it can eventually lead to hemolytic anemia. Hemolytic anemia develops when red blood cells are destroyed faster than the body can replace them, resulting in reduced oxygen flow to the organs and tissues.
This can cause fatigue, yellowing of the skin and eyes, and shortness of breath. In people with G6PD deficiency, hemolytic anemia can occur after eating fava beans or certain legumes. It may also be triggered by infections or by certain drugs, such as:. G6PD deficiency is most prevalent in Africa, where it can affect up to 20 percent of the population.
The condition is also more common in men than in women. Once the underlying cause is treated or resolved, symptoms of G6PD deficiency usually disappear within a few weeks. G6PD deficiency is a genetic condition that is passed along from one or both parents to their child.
The defective gene that causes this deficiency is on the X chromosome, which is one of the two sex chromosomes. Men have only one X chromosome, while women have two X chromosomes. In males, one altered copy of the gene is enough to cause G6PD deficiency.
0コメント