موقع الطبي للمعلومات الصحية والاستشارات الطبية | أمراض، أدوية وعلاج | الطبي

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Indiana Hemophilia & Thrombosis Center

A genetic deficiency that can lead to anemia Glucose-6-phosphate dehydrogenase (G6PD) is a substance that helps the body use sugar for energy. It is an enzyme, which means it speeds up chemical changes when the body converts sugar to energy. The G6PD enzyme is found in all the body’s cells, but it is especially important in red blood cells. These are the cells that contain hemoglobin and carry oxygen throughout the body. The G6PD enzyme protects the red blood cells from harmful chemicals or toxins, which can build up in your body during certain illnesses or after taking some medicines. People with G6PD deficiency do not have enough G6PD enzyme to neutralize certain chemicals or toxins. Normally, there are only tiny amounts of toxins in the body, and so it is not usually a problem for the G6PD enzyme to make them harmless. So, what is the problem? If G6PD is not present, strong chemical products are not neutralized and they can damage the hemoglobin inside red blood cells. A build-up of toxins or chemicals can cause the red blood cells to break apart and be destroyed (also known as hemolysis). This makes a person anemic (reduced levels of hemoglobin and red blood cells). Sometimes the anemia can happen very quickly. Hemolysis may lead to severe anemia and can cause jaundice (a yellowing of the skin) from the build-up of hemoglobin breakdown products in the blood. Some infants who experience jaundice have G6PD deficiency. The IHTC clinical team will provide a detailed list of medicines and substances that are known to “trigger” hemolysis and which should be avoided.  Fortunately, once the cause or trigger is removed, hemolysis usually stops within a short period of time. Cause of G6PD Deficiency G6PD deficiency is a genetic condition that is caused by an alteration (a mutation or a change) in the G6PD gene. This mutation prevents the production of the normal enzyme. The mutation is passed on in families in an X-linked recessive pattern. This means that the gene that codes for the G6PD enzyme is located on the X-chromosome; males have one X chromosome and females have two. When a male inherits a gene for G6PD that is not functioning properly, he will have G6PD deficiency. When a female inherits a gene for G6PD deficiency she is referred to as a carrier because she has a second normal copy of the gene (from the other parent) that can often compensate for the altered gene. Female carriers may or may not experience symptoms of G6PD deficiency. Carriers of G6PD deficiency have a 50% chance of passing the altered gene on to each of their children. Each son of a carrier has a 50% chance of having G6PD deficiency and each daughter has a 50% chance of being a carrier.  Men with G6PD deficiency do not pass the gene on to any of their sons; however, all of their daughters will be carriers. Often a mother has no symptoms and has no way of knowing that she is a carrier of G6PD deficiency. Carrier testing in families who are known to have G6PD deficiency is avai