GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY

What is G6PD deficiency

• G6PD deficiency is a genetic disorder
• G6PD deficiency caused due to a deficiency of a chemical enzyme called glucose-6-phosphate dehydrogenase found in the RBC (red blood cells) causes red blood cells to break down prematurely.
• This syndrome is more common in males than females. Usually female became carrier.
• This deficiency did not show any symptom but after exposure to certain medicines, foods, and other infections, it causes severe injury to red blood cells by breaking the RBC's down
• Destruction of red blood cells is called hemolysis. If not properly treated, it will cause kernicterus.
• Once you get this disease, it can be either life long process or it could be cured.
• Typically,  easily curable with proper medicine

Symptoms of G6PD deficiency

• typically do not show any symptoms of the disorder until their red blood cells are exposed to certain triggers, which can be:

       Øillness, such as bacterial and viral infections

Øcertain painkillers and fever-reducing drugs

Øcertain antibiotics (especially those that have "sulf" in their names)

Øcertain antimalarial drugs (especially those that have "quine" in their names)

• In more serious cases
  Øpaleness (in darker-skinned children paleness is sometimes best seen in the mouth, especially on the lips or tongue)
  Øextreme tiredness
  ØRapid heartbeat
  ØRapid breathing and shortness of breath
  Øjaundice, or yellowing of the skin and eyes, particularly in newborns
  ØAn enlarged spleen
  Ødark, tea-colored urine

• Jaundice is one of the big side effects of G6PD deficiency. Newborn babies can have this disorder

ØThe main symptom of jaundice is a yellowish color of the eyes and mucous membrane.

ØG6PD causes jaundice by breaking down the red blood cells

Ø With jaundice, the baby's liver can not properly filter out toxins from the child's system, then lead to even more serious health problems

• For adult – if you get G6PD deficiency:

Ø You should avoiding eating beans – this food  increases the breakdown of red blood cells in this condition

Ø You should never use mothballs in your clothing or closets – these can exacerbate the disease

ØYou need proper medical treatment to make sure you have no lasting negative health effects 

Common affected of G6PD

• Distribution – most frequently in certain parts of Africa, Asia, and the Mediterranean
• An estimated 400 million people worldwide have glucose-6-phosphate dehydrogenase deficiency
• It affects about 1 in 10 African-American males in the United States

The gene related to G6PD

• G6PD is genetic disorder that related to mutations in the G6PD gene
• The G6PD gene provides instructions for making an enzyme called glucose-6-phosphate dehydrogenase.
• This enzyme functions as:

       Ø normal processing of carbohydrates

Øprotects red blood cells from the effects of potentially harmful molecules called reactive oxygen species - Reactive oxygen species are byproducts of normal cellular functions that building up to toxic levels within red blood cells

• If the G6PD deficiency by mutation, reactive oxygen species can accumulate and damage red blood cells
• Then, factor such as infections, certain drugs, or ingesting fava beans can increase the levels of reactive oxygen species causing red blood cells to be destroyed faster than the body can replace them. Afterward, it will cause hemolytic anemia
• carriers of a G6PD mutation may be partially protected against malaria, an infectious disease carried by a certain type of mosquito. Glucose-6-phosphate dehydrogenase deficiency occurs most frequently in areas of the world where malaria is common

How people inherit G6PD deficiency 

• This condition is inherited in an X-linked recessive pattern
• The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes
• In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition.
• In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder.
• Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females.
• A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons

Diagnosis and treating G6PD deficiency

• G6PD deficiency go undiagnosed until symptoms have been develop
• To confirm the diagnosis usually use blood tests and to rule out other possible causes of the anemia
• Treating the symptoms associated with G6PD deficiency is usually as simple such treating the illness or infection or stopping the use of a certain drug
• But, severe anemia may require treatment in the hospital to receive oxygen, fluids, and, if needed, a transfusion of healthy blood cells
• In rare cases, the deficiency can lead to other more serious health problems