G6PD deficiency: Description, Causes and Risk Factors:Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme that helps red blood cells to work properly. Some people have less than the usual amount of G6PD in their red blood cells (RBCs). This is called G6PD deficiency. Most people with G6PD deficiency have completely normal health, but sometimes it can cause problems.G6PD is an enzyme which has the main roll of helping cells convert carbohydrates into a form they can use. In the process of doing that another enzyme is produced called reduced glutathione. This enzyme is a very powerful antioxidant. Since those with this deficiency do not have enough G6PD, they do not produce enough reduced glutathione to protect cells from oxidative stress. In all other cells except red blood cells (RBC) it is not critical as they have other means of protection. But for RBC's it is a deadly matter.When RBC's are exposed to oxidative stress, the cell membrane either bursts or is damaged because there is no or not enough reduced glutathione to protect them.Common gene mutationsAfrican A- mutation (G202A; A376G).
The common Mediterranean mutation (C563T).
Two common Chinese mutations.
G6PD deficiency is an inherited disorder, which means it is passed from one or both parents to the child. It affects males more often than females. About 400 million people worldwide have deficiency. Anyone can have G6PD deficiency, but it is most common in people whose families came from Africa or other areas where malaria has been common, such as the Mediterranean, Caribbean, and South-East Asia. Certain ethnic groups have an increased incidence of G6PD deficiency than others. G6PD deficiency is seen in about 10 percent of African-American males in the U.S. The severity of G6PD deficiency differs among different populations. In the most common form in the African-American population, the deficiency is mild and the hemolysis (destruction of red blood cells) affects primarily older red blood cells. In Caucasians, G6PD deficiency tends to be more serious, as even young red blood cells are affected.Symptoms:Symptoms may include:Fatigue.
Urine appears very dark, red, red-brown, brownish or tea colored.
Yellow coloring of the eyes and skin (jaundice).
Spleen may be enlarged.
Some newborns with G6PD deficiency may develop jaundice more easily during the first week of life. Decades ago in Singapore, before screening of deficiency was done routinely, some affected newborns developed high levels of jaundice which caused brain injury.Diagnosis:Diagnosis may include the following tests:Complete blood count: active G6PD shows presence of "Heinz bodies" (protein aggregates) within the red blood cells.
Liver Function Tests: done to rule out other causes of liver damage and jaundice.
Coombs test: to check for presence of direct antiglobulin. The results should ideally be negative as RBC breakdown is not an autoimmune condition.
Haptoglobin: reduced in RBC breakdown (hemolysis).
Beutler fluorescent spot test: The conversion of nicotinamide adenine dinucleotide phosphate (NADP) to its reduced form in RBCs is the basis of diagnostic testing for the deficiency.
If your child is diagnosed with deficiency, you will be counseled by neonatal doctor and given a written handout for more details about how this condition is inherited and the precautions you will need to take for your baby.Treatment:If there is an infection present that triggered the condition, the underlying infection is treated accordingly. There is no known cure for the condition, but in severe cases, a blood transfusion may be necessary. Individuals can recover from the hemolysis caused by G6PD deficiency on their own, but severe hemolytic events do occur. Close monitoring of these episodes is critical.Managing G6PD deficiency involves avoiding foods and medications that can trigger the condition. Reducing stress levels can also help in controlling the disease. Ask your doctor for a printed list of medications and foods that you should avoid.NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
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