G6PD Deficiency (Glucose-6-Phosphate Dehydrogenase Deficiency)

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G6PD Deficiency
Body Parts: Whole Body
Medical Subjects: Children's Health Blood Genetic disease
Overview

What Is G6PD Deficiency?

What is G6PD deficiency disease?

G6PD deficiency, also known as glucose -6- phosphate dehydrogenase deficiency, is a disease in which red blood cells are damaged by the lack of glucose-6-phosphate dehydrogenase and cannot function properly.

Most people don't have any symptoms at ordinary times, or even many people don't know that they have G6PD deficiency, but sometimes they are sensitive to certain foods, drugs and chemicals, resulting in clinical symptoms. Clinical symptoms include jaundice, pale skin, dark urine, back or abdominal pain, anemia, etc.

G6PD deficiency is a disease that patients are born with, caused by an abnormal gene, belonging to the genetic disease. It is more common in certain groups, such as those whose ancestors came from Africa, the Mediterranean region, or parts of Asia, South America, or the Middle East.

Treatment for G6PD deficiency depends on the patient's symptoms and the severity of the anemia, and most patients only need to know which foods, drugs, and chemicals to avoid. Some severe patients require transfusion therapy.

Is G6PD deficiency common?

G6PD deficiency affects 400 million people worldwide, mainly in tropical and subtropical countries, as well as countries bordering the Mediterranean Sea.

In China, G6PD deficiency patients are mainly distributed in the provinces south of the Yellow River basin, especially in Yunnan, Guangdong, Guangxi, Hainan, Sichuan, Guizhou and other regions, while it is less common in the northern regions. There are generally more men than women.

Is G6PD deficiency and fava bean disease the same disease?

Not the same disease.

Almost all the patients with silkworm disease are G6PD deficiency patients, all of whom are sensitive to broad bean. However, G6PD deficiency includes acute hemolytic anemia, congenital non-spherical erythrocyte hemolytic anemia and neonatal hyperbilirubinemia, in addition to bean disease.

These diseases can be induced by drugs or other substances, and only a few individuals with G6PD deficiency are sensitive to broad bean.

What are the types of G6PD deficiency?

According to the degree of glucose -6- phosphate dehydrogenase deficiency and the severity of hemolysis, the World Health Organization has classified G6PD deficiency as follows:

  • Class I: Severe enzyme deficiency with enzyme activity less than 10% of normal value exists, such as congenital non-spherical red blood cell hemolytic anemia and severe neonatal hyperbilirubinemia; lifetime hemolysis occurs even in the absence of infection or without medication. Anemia and jaundice are usually first detected in the neonatal period, and hyperbilirubinemia is usually so severe that exchange transfusion is required.
  • Class II: Severe enzyme deficiencies, such as Mediterranean G6PD deficiency, are present, but usually only intermittently, with acute hemolysis induced by infection, drugs, or chemicals.
  • Class III: Moderate enzyme deficiency with activity of 10%–60% of normal level, such as G6PD A-, usually with intermittent episodes of acute hemolysis induced by infection, drugs, or chemicals.
  • Class IV: No enzyme deficiency or hemolysis (no clinical significance).
  • Class V: increased enzyme activity (without clinical significance).
Cause

What Is The Cause Of G6PD Deficiency?

What are the common causes of G6PD deficiency?

Hemolysis does not always exist in most patients with G6PD deficiency. Hemolysis will only occur after being induced by certain factors. The common inducing factors include:

Some infections include salmonella, e. coli, beta hemolytic streptococcus, rickettsia, and viral hepatitis. Bilirubin cannot be normally handled after liver damage in patients with viral hepatitis, which can lead to significant increases in serum bilirubin.

  • Some drugs: sulfonamides, for example; antimalarial drugs such as primaquine, nitrofurantoin, and gentian violet, for example.
  • Some foods: like broad beans and bitter melon. Of particular note, a mother breast-feeding a baby with G6PD deficiency after consuming broad beans may also develop silkworm egg disease.
  • Chemicals: Includes naphthalene (camphor ball), aniline dyes, and henna used in hair coloring and tattooing.
  • Certain conditions: Diabetic ketoacidosis may induce G6PD deficiency.

Will G6PD deficiency be inherited?

G6PD deficiency is an inherited condition. The disease's gene is on the defining x chromosome. Female is XX, male is XY.

Since a man has only one X chromosome, if this gene is mutated, his red blood cells lack G6PD, i.e. a patient with G6PD deficiency.

If this gene is mutated on one of the x chromosomes of a woman, then she is a gene carrier for G6PD deficiency and the G6PD on her other normal x chromosome is normal enough to protect the red blood cells from damage so that they are asymptomatic.

In such cases, the gene carrier with G6PD deficiency has a 50% chance of passing the mutated gene on to the next generation. Her chances of giving birth to a son with G6PD deficiency is 50%, and each of her daughters has a 50% chance of becoming a gene carrier with G6PD deficiency.

Symptom

What Is The Symptoms Of G6PD Deficiency?

What are the common manifestations of G6PD deficiency?

The clinical manifestations of G6PD deficiency vary from person to person.

Most patients, like normal people, do not have any symptoms and do not need any treatment. Symptoms did not appear until some factor inducing hemolysis was encountered. Jaundice can sometimes occur in neonates. Some patients may always have hemolysis no matter what food they eat or what medications they take.

Symptoms of G6PD deficiency may include:

  • Jaundice, manifested as yellowing of the skin or whites of the eyes (sclera).
  • Pale skin, or pale lips, tongue or inside of eyelid.
  • Urine is dark.
  • Back or abdominal pain.
  • Fatigue, fatigue, or headache caused by anemia.

What are the manifestations of moderate G6PD deficiency?

The moderate G6PD deficiency disease can present the acute hemolysis, is usually stable, does not have the anemia, does not have any symptom.

However, 2–4 days after medication administration, jaundice, pale and dark urine will suddenly appear with or without abdominal pain or back pain, and at the same time, the hemoglobin concentration will suddenly drop by 3–4 g/dL.

What are the manifestations of severe G6PD deficiency?

Severe G6PD deficiency, also known as Class I G6PD deficiency, generally suffers from chronic hemolysis, which is particularly sensitive to drugs and chemicals. Even if other patients with G6PD diseases such as Class II and Class III are safe, severe patients may aggravate hemolysis.

Symptoms of bean disease in the intake of broad bean (fresh broad bean, fried broad bean and broad bean products. It is currently believed that there is a risk of silkworm disease occurring after consuming balsam pear), including headache, nausea, back pain, chills and fever, followed by hemoglobinuria and jaundice, within 5 to 24 hours.

How is hemolysis in patients with G6PD deficiency caused by drugs and chemicals?

A common feature of these drugs and chemicals is that they can both interact with hemoglobin and oxygen, causing intracellular formation of hydrogen peroxide (H2O2) and other oxidative free radicals.

If there is enough G6PD in the cells, they can be protected from oxidation. If there is lack of G6PD, along with the accumulation of these oxidants, hemoglobin and other protein will be oxidized, leading to the loss of protein function and red blood cell death.

How does G6PD deficiency develop?

G6PD (glucose -6- phosphate dehydrogenase) is a protein (enzyme) in red blood cells that stabilizes red blood cells and promotes their proper functioning.

For patients with G6PD deficiency, the number of G6PDs in red blood cells is relatively small or very small. Then the red blood cells are more sensitive to certain foods, drugs and chemicals. When stimulated, the red blood cells will be damaged and dissolved in large amounts, i.e., a "hemolysis" phenomenon will occur.

At this time, hemoglobin is released from red blood cells, which aggravates the burden on the liver. Excessive bilirubin will form jaundice, and anemia will be caused by too few red blood cells in the body.

If a newborn with G6PD deficiency develops persistent jaundice worsening, what effect will it have on the baby?

Acute hemolysis will produce excessive bilirubin, and excessive bilirubin will enter the brain of the newborn baby, causing some permanent damage, such as intellectual impairment, hearing impairment and motor function damage, so early detection and early treatment.

What are the serious consequences of G6PD deficiency?

Patients with G6PD deficiency develop acute hemolytic reactions, which in severe cases can be life-threatening with rapid breathing, heart failure, acute renal failure, and even shock.

Detect

How To Check G6PD Deficiency?

How to diagnose G6PD deficiency?

G6PD activity detection and gene detection are the main methods to diagnose G6PD deficiency.

For patients with acute hemolysis, laboratory tests such as routine blood test, reticulocyte test, serum bilirubin and free hemoglobin test are useful indicators to monitor the progress of the disease.

How to diagnose G6PD deficiency in newborn babies?

The umbilical cord blood can be screened for newborns and babies, and the G6PD activity of umbilical cord blood can be detected.

Which diseases are easily confused with G6PD deficiency? How to distinguish?

Because G6PD deficiency causes jaundice, G6PD deficiency may be confused with jaundice caused by other reasons. Doctors need to distinguish between G6PD activity test and gene test.

Prevention

How To Prevent G6PD Deficiency?

Can G6PD deficiency be prevented? How should it be prevented?

G6PD deficiency is to some extent preventable. Most patients as long as the whole life to avoid contact can cause hemolysis of food, drugs or chemicals, with the average person's health is no different.

Which medications or foods are unsafe for patients with G6PD deficiency?

  • Unsafe drugs: primaquine, nitrofurantoin, chloramphenicol, dapsone, furazolidone, phenazopyridine, methylene blue, probenecid, salicylic acid, sulfadimidine, sulfamethoxazole, sulfasalazine, glipizide, hydroxychloroquine, etc.
  • Traditional Chinese medicines to be avoided: calculus bovis, flos lonicerae, flos wintersweet, rhizoma coptidis, and margarita powder.
  • Foods to avoid: Broad beans and broad bean products such as fans with broad beans, all beans, blueberries (which also include these yogurt), soy products, bitter melon, and so on.
  • Other: Naphthalene-containing camphor ball or mothproof tablets, aniline dyes and henna ingredients for hair dye and tattoos.
  • The following commonly used medications for glaucoma such as brinzolamide and acetazolamide are contraindicated in people with G6PD deficiency.
  • Not all of that above food and drugs are absolutely avoid, depending on the degree of G6PD deficiency in the patient and the dose of the chemical agent to which the patient is exposed.
Treatment

How To Treat G6PD Deficiency?

Which department should I visit for G6PD deficiency disease?

Hematology, neonatal, pediatric.

Can G6PD deficiency heal itself?

G6PD deficiency is a congenital disease, can't oneself good, but most patients as long as avoid the cause of hemolysis will not appear symptoms, can live like a normal person.

How to treat G6PD deficiency disease?

Treatment for G6PD deficiency depends on the patient's symptoms and the severity of the anemia, and most patients only need to know which foods, drugs, and chemicals to avoid.

Discontinue medication or food if symptoms arise from the medication or food. In general, contact with foods, drugs, and chemicals that usually cause symptoms should be avoided. For example, broad beans can cause hemolysis in many patients.

Patients with severe anemia sometimes require transfusion therapy, in which they receive blood donated by another person, which enters your vein through a narrow tube. Patients with severe hemolysis may also require intravenous fluids.

Babies with jaundice are often treated with "phototherapy," also called blue light therapy. During phototherapy, medical staff place the baby under a special blue light or wrap the baby in a "light blanket", which helps the baby's body system remove harmful parts of damaged red blood cells.

Patients with chronic anemia may need treatment with a vitamin called folic acid, but this is unusual.

Does G6PD deficiency require hospitalization?

Because blood transfusion is the most effective method in acute hemolysis stage, patients like this need hospitalization.

Under what circumstances does a patient with G6PD deficiency need immediate medical attention?

Acute hemolysis occurs when a large number of red blood cells are destroyed and decomposed in a short time.

At this time, the red blood cells lost due to damage faster than the body to produce new red blood cells, so the body can not be timely enough to supplement red blood cells, which will cause acute or severe anemia, there will be a series of symptoms: pale; Yellow skin and white eyes; Excrete dark brown urine; Feel tired; Breathing is not smooth; Heart racing. Seek medical advice promptly when the above symptoms occur.

Life

What Should Patients With G6PD Deficiency Pay Attention To In Life?

What should patients with G6PD deficiency pay attention to in their diet?

  • Because G6PD deficiency patients to some food, such as broad bean and its products can induce or aggravate hemolysis, diet should pay attention to avoid, at the same time also should pay attention to food can cause serious allergic reactions, in order to avoid patients worse, lead to deterioration of the condition.
  • Eat their own habits of safe food, appropriate supplement of high protein, high calorie, high vitamin, good nutrition, easy to digest food.
  • Mothers who are still nursing their children should take care to prevent certain foods (drugs) from aggravating the hemolysis of the patients through the milk, in addition to providing the patients with adequate milk.

What should patients with G6PD deficiency pay attention to in life?

  • In life is mainly to avoid taking and contact with some oxidative drugs and chemicals.
  • In infants with G6PD deficiency, lactating mothers are also advised to avoid ingesting substances that cause hemolysis in order to prevent the baby from developing the disease due to absorption through breast milk.

Does G6PD deficiency need to be reviewed? How to review?

Patients with G6PD deficiency do not need to have blood drawn and have follow-up visits regularly as long as they can avoid contact with precipitating factors such as some foods and chemicals for the rest of their lives.

Does G6PD deficiency affect fertility?

Patients with G6PD deficiency can give birth, and neonatal screening is recommended to identify whether the baby has G6PD deficiency, which can early intervene in neonatal jaundice caused by G6PD deficiency and prevent the illness of the newborn from being delayed and the quality of life of the child from being affected due to improper treatment.

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