G6PD deficiency

G6PD deficiency's disease overview

What is G6PD deficiency?

G6PD deficiency is a genetic genetic disease on sex chromosomes X. G6PD is the abbreviation of glucose-6-phosphate dehydrogenase. This is a type of enzyme in the human body, maintaining the sustainability of the cell membrane, especially when cells are "attacked" by oxidative agents in food, drugs or infringement agents. Enter from the outside environment, and stress. Fava beans are one of the most common all -life causes, reducing the durability of red blood cells in people with G6PD enamel, so the disease is also known as Favism. When infected with G6PD enamel, the patient's red blood cells become fragile to the above oxidative agents. This condition is called hemolysis due to G6PD deficiency, if prolonged will cause hemolytic anemia .

In most cases, the patient does not show any symptoms until exposed to the onset elements. At that time, symptoms such as jaundice, dark urine, rapid breathing, fatigue will appear. Complications of the disease include anemia and jaundice.

The World Health Organization classifies G6PD genetic disorders into five groups, three of which are G6PD deficiency.

Group I: Serious deficiencies (Activity <10%) with chronic hemolytic anemia

Group II: Serious deficiencies (Activity <10%), Unbelievable hemolysis

Group III: Moderate deficiency (10-60%activity), hemolysis occurs only when exposed to the onset elements.

Group IV: Variant does not lack, does not leave clinical sequelae

Group V: Increasing enzyme activity, leaving no clinical sequelae

G6PD enzyme disease is a common genetic disease, meeting nearly 400 million people around the world, estimated incidence of about 3-5%. The disease is common in areas such as Asia, Africa, and the Mediterranean, of which Africa is the continent with the highest incidence. Men are more influential than women. In 2015, G6PD deficiency was thought to be the cause of more than 33,000 deaths. G6PD deficiency is an abnormal enzyme abnormal disease in the second most common person, after Aldh2 enzyme deficiency.

Causes of G6PD deficiency's disease

Genetics

The cause of G6PD enamel is a gene defect on sex chromosomes X. Men normally have only one sex chromosome X (XY) while women have up to 2 chromosomes Sex X (xx). So the disease is easier to manifest in men. Women need a change in the new sex chromosome pair causing G6PD deficiency.

A child who is ill from receiving abnormal diving genes from his father and/or mother. Some cases may occur as follows:

If your father is healthy, he married a healthy mother but carrying a disease gene:

Probability of giving birth to a girl with a glossy G6PD: 0%

Probability of giving birth to a healthy girl but carrying a disease gene: 50%

The probability of giving birth to a son is deficient in G6PD: 50%

Probability of having a healthy son: 50%

If the father is deficient in G6PD married to a healthy mother and does not carry the disease gene:

The probability of giving birth to a girl with an enzyme G6PD: 0%

Probability of giving birth to a boy with an enzyme G6PD: 0%

Probability of giving birth to a healthy girl but carrying a disease gene: 100%

If the father is deficient in G6PD married to a healthy mother but carrying a disease gene:

Probability of giving birth to a girl with G6PD: 50%

Probability of giving birth to a normal girl but carrying genes: 50%

The probability of giving birth to a son is deficient in G6PD: 50%

The probability of giving birth is completely normal: 50%

If the father and mother have the same enamel disease G6PD, they will have a 100%probability of a son or girl.Starting factors:

People with normal G6PD enzymes only manifest symptoms when red blood cells in the blood exposed to the diseased factors, divided into 3 groups as follows:

Food: Sweet beans are the most common agent.

Drugs: Some of the drugs have been shown to promote the disease including aspirin, sulfamide, green methylene, high doses of vitamin C, quinine and medications that treat malaria originating from from magnetic malaria. Quinine, active ingredient containing naphthalene.

infection: viruses, bacteria such as e.coli, hemophylus influenza, hemolytic streptococcal, rickettsia, hepatitis virus.

Symptoms of G6PD deficiency's disease

Most people with G6PD enamel are not showing any abnormalities until they come into contact with the onset elements. Clinical symptoms that can be encountered now include:

Fatigue, dizziness, may have fever

Difficulty breathing, fast circuit

Dark urine

jaundice and/or yellow white eyes.

Symptoms of the disease vary depending on the disease

Acute body:

Start appearing after 24-48 hours from exposure to the onset elements.

Clinically manifested with high fever, vomiting, abdominal pain, pale skin, pale mucosa, dark urine, can be shocked by blood soluble and acute kidney failure .

The disease often recovers after a few weeks.

jaundice in infants:

The history of siblings with similar jaundice after birth

Newborn babies with expression of jaundice, anemia progresses quickly.

Jaundice appears in the first 24 hours after birth is a heavy sign. Usually symptoms of jaundice appear on Monday and Tuesday after birth

Mental abnormal expression such as li, breastfeeding, abnormal crying need to think of complications of jaundice. If not treated promptly, it will affect future brain development. These injuries are not recovered.

Transmission route of G6PD deficiency's diseaseG6PD deficiency

G6PD deficiency disease is a genetic disease so it does not spread between the patient to a healthy person through normal contacts.

People at risk for G6PD deficiency's disease

The risk of G6PD enameled disease includes:

Sex

Race: Asians, Africa, Mediterranean, especially African Americans.

Family history: There are relatives in the family with this disease, especially the first -generation members like parents, children and siblings. When a person has a loved one with G6PD enamel, this person is most likely to carry the disease gene.

Prevention of G6PD deficiency's disease

How to prevent and control enameling G6PD:

Neonatal screening G6PD enamel diseases: Currently, along with congenital hypothyroidism and congenital adrenal gland growth, G6PD deficiency Simultaneous screening by taking venous blood in most major hospitals across the country. The best time for screening is from 3 to 7 days old. Early screening, early detection of great significance in limiting the onset of disease and preventing complications of the disease, including jaundice.

Pre -marital screening: Detecting people carrying a disease gene, limiting marriage between people with G6PD deficiency but has not expressed symptoms.

Full vaccination for young children with enameled G6PD

Come see a doctor when having a family member

Avoid exposure to known diseases and specific factors in each patient.

Come to the examination as soon as there are abnormal symptoms to control the disease well and mitigate the complications.

Diagnostic measures for G6PD deficiency's disease

The diagnosis of G6PD enzyme deficiency is determined by the G6PD quantitative test in the body. The clinical symptoms are not unique but have a suggestion meaning, especially in patients with a family history or a disease gene.

Other subclinical tests include:

Blood formula: Hemoglobin, Number of red blood cells.

Liver enzymes: Eliminate other causes of jaundice

LDH (lactate dehydrogenase): Assessing the severity of hemolytic condition

Test Coombs

Quantify blood bilirubin

Urine analysis

G6PD deficiency's disease treatments

The most important treatment for enameling G6PD is to eliminate the onset factors, including:

Avoid food or drugs that have been determined to cause hemolytic.

Preventing vaccine can fight a few bacterial causing agents such as hepatitis A virus, hepatitis B virus.

In acute diseases, when hemolysis is happening, blood transfusion may be necessary to treat the disease. Blood transfusion is the most effective treatment for symptoms because the red blood cell cell in the human blood does not have a deficiency of G6PD yeast, so it will last longer to provide enough oxygen to the body. In severe cases, dialysis requires acute renal failure.

Spleen is an effective surgical treatment on some patients because the spleen is where red blood cells are arrested and destroyed. Drugs like vitamin E and selenium, although antioxidant agents, have no treatment effect.

See also:

What is the G6PD deficiency? Is it dangerous?

Infant G6PD deficiency, what is the disease?

Infant jaundice

Distinguish physiological and physiological jaundice

3 types of newborn screening by blood test

Why should a newborn screening after birth?

Basic marriage examination package

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