is anyone familiar with the G6PD deficiency?

Question

my son was diagnosed at his newborn screening and i am so afraid that he will become very sick. i had a dream that scared me. his eyes lids (top and bottom) were so red and he was really thin and sickly looking

Answer 1

To understand G6PD deficiency - a type of metabolic disorder - you will first need to know a little about what metabolism is and how enzymes play an essential role in it. Metabolism is a series of chemical processes through which the body uses the nutrients in food to produce the energy it needs. The body requires energy as fuel to perform its most basic functions: movement, growth, maintenance of healthy tissues, and removal of wastes. Throughout each day, metabolism involves thousands of chemical reactions that are necessary for life.

Cells produce special substances called enzymes that regulate most chemical reactions in the body. The body needs enzymes so its metabolism can function properly. A child born with a metabolic disorder usually inherits a genetic mutation - a change in a gene - that creates problems with a particular enzyme. That enzyme's activity may change or stop completely, altering one of the metabolic pathways that take place in the body. As a result, a certain key substance, such as a carbohydrate, sugar, fat, or protein, is not processed correctly. In this way, deficient enzymes affect the body's metabolic balance, which can lead to health problems that are sometimes serious.

What Is G6PD Deficiency?
Glucose-6-phosphate dehydrogenase , or G6PD, is just one of the many enzymes that affect cell metabolism. G6PD is produced by red blood cells and helps the body process carbohydrates, turning them into energy. Normal functioning of G6PD is also important to the body because it protects the red blood cells from the stress of oxidizing substances. These are potentially harmful byproducts that are created when certain medications are taken or when the body's immune system is working hard to fight infection.

Normally, G6PD works to "neutralize" oxidative substances and protect cells from what is referred to as oxidative stress. Without enough normal G6PD to help red blood cells get rid of harmful oxidative substances, they can be damaged or destroyed, leading to a condition known as hemolytic anemia. In a process called hemolysis, red blood cells are destroyed prematurely, and the bone marrow (the soft, spongy part of the bone that produces new blood cells) cannot keep up with the body's need for new cells. G6PD deficiency is often classified according to how severe a child's hemolytic reaction is, with classes 1 and 2 being the most severe, class 3 being mild, and class 4 not causing any symptoms at all.

About 400 million people worldwide have G6PD deficiency, making it the most common inherited enzyme deficiency. In those who are born with it, either the red blood cells do not make enough of the enzyme or the G6PD produced is altered and cannot function properly.

Under normal circumstances, G6PD deficiency usually does not cause problems for most children. However, it can become a problem when children develop an illness or infection; when they take certain medications, such as pain medicines, certain antibiotics, and drugs to treat malaria; or when they are exposed to other specific substances, such as mothballs or fava beans. All of these things increase the amount of oxidative stress on the body's red blood cells.

What Causes G6PD Deficiency?
G6PD deficiency is inherited, or passed along from one or both parents to a child in genes. The parent may have the condition or simply carry the gene for it. It is an X-linked, recessive condition, meaning that the gene responsible for this deficiency is on the X chromosome. This explains why many more boys than girls have G6PD deficiency: Girls have two X chromosomes, so there's a good chance that if they inherit the mutated gene that leads to G6PD deficiency from one parent, they will not inherit it from the other, leaving one of their X chromosomes unaffected. The normal gene on the unaffected chromosome essentially balances out the defect. Because boys have only one X chromosome, the mutation on that chromosome will cause the condition.

Although the condition has been found in most groups of people, it is most common in African-American males, with as many as one in 10 in the United States affected. Many African-American females are carriers of G6PD deficiency, meaning they can pass the gene for the deficiency on to children but do not have symptoms; a few African-American women - those who inherit a faulty gene from each parent - are actually affected by the deficiency.

People of Mediterranean heritage, including Italians, Greeks, Arabs, and Sephardic Jews, are commonly affected as well. The severity of G6PD deficiency varies among these groups. The condition tends to be milder in African Americans and more severe in people of Mediterranean descent.

Why does G6PD deficiency occur more often in certain groups of people? It is known that Africa and the Mediterranean basin are high-risk areas for the infectious disease malaria. Researchers have found evidence that the parasite that causes this disease does not survive well in G6PD-deficient cells. So they believe that the deficiency may have developed as a protection against malaria.

What Can Trigger Symptoms Related to This Condition?
Children who have G6PD deficiency typically do not show signs of the disorder until their red blood cells are exposed to higher-than-normal amounts of oxidative stress. Oxidative stress can be caused by:

illness, including bacterial and viral infections
certain medications, including painkillers and fever-reducing drugs that contain aspirin or phenacetin
sulfonamides and sulfones, two classes of infection-fighting drugs; there are many different medications in these categories, but usually they have "sulf," "sulfa," or "sulfo" in their names
antimalarial drugs, such as quinine, chloroquine, primaquine, and others with "quine" in their names
other miscellaneous medications, such as methylene blue (used to treat urinary infections) and vitamin K
other substances that can be harmful when consumed - or even touched - such as fava beans and naphthalene (a chemical found in mothballs and moth crystals). Accidental swallowing of mothballs by children with G6PD deficiency is especially harmful; for these children, any contact with mothballs should be avoided. It appears that fava beans are mostly a problem for some children of Mediterranean descent who have the condition.
Some children can tolerate the medications mentioned above in small amounts; others cannot take them at all. Check with your doctor for more specific instructions, as well as a complete list of medications that could pose a problem for a child with G6PD deficiency.

Signs and Symptoms
If your child has G6PD deficiency and is exposed to a medication or infection that causes oxidative stress in his blood cells, sometimes there are no symptoms at all. In more serious cases, your child may exhibit symptoms of anemia, including:

paleness (in darker-skinned children paleness is sometimes best seen in the mouth, especially on the lips or tongue)
extreme tiredness
rapid heartbeat
rapid breathing or shortness of breath
jaundice, or yellowing of the skin and eyes
an enlarged spleen
dark, tea-colored urine
Once the trigger is removed or resolved, the symptoms of G6PD deficiency usually disappear fairly quickly, typically within a few weeks. When symptoms are mild, no medical treatment is usually needed. If symptoms are more severe, a child may need to be hospitalized for supportive medical care. As the body naturally produces new red blood cells, those cells will not have been exposed to the oxidative stress triggered by the prior illness, medication, or other agent, and the anemia will improve.

Diagnosis and Treatment
In most cases, it is not known from birth that a child has G6PD deficiency, until his red blood cells are exposed to oxidative stress and he develops symptoms of the disorder from the resulting anemia. If doctors suspect G6PD deficiency, laboratory tests are ordered to help make the diagnosis. These include a complete blood count, a blood smear (where blood is smeared onto a glass slide and the blood cells are examined under a microscope), and special blood tests that directly measure G6PD activity or look for specific DNA. Additional blood tests are usually done as well to make sure there are no other possible causes of the anemia.

If you feel that your baby or child may be at risk for G6PD deficiency because of either a family history of the condition or your ethnic background, talk to your child's doctor about a screening test. This involves the blood tests used to diagnose the condition. Washington, DC, requires that all newborn babies be screened for the deficiency.

Treating the symptoms associated with G6PD deficiency is usually as simple as removing the trigger - that is, treating your child's illness or infection or discontinuing the use of a certain drug. However, severe anemia may require treatment in the hospital, such as supportive care with oxygen and fluids, and sometimes a transfusion of healthy blood cells. In rare cases, the deficiency can lead to kidney failure or shock, requiring intensive care in the hospital until the child recovers.

Caring for Your Child
The best way to care for your child is to limit his or her exposure to the triggers of symptoms related to G6PD deficiency. See your child's doctor if your child becomes ill, develops an infection, or is exposed to the medications or other substances that can trigger a hemolytic episode and significant anemia. With the proper precautions, G6PD deficiency should not keep your child from living a healthy, active life.

Answer 2

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