WHAT IS G6PD?
WHAT IS G6PD DEFICIENCY?
By Dr. Katherine Paa, Pediatrics
Nowadays since the advent of Newborn Screening, G6PD has been a common word for everybody. But does it really mean??? Let me share few important details about Glucose- 6-phosphate deficiency.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency in humans, affecting 400 million people worldwide. It has a high prevalence in persons of African, Asian, and Mediterranean descent. It is inherited as an X-linked recessive disorder. G6PD deficiency is polymorphic, with More than 300 variants. G6PD deficiency is a genetic abnormality that results in an inadequate amount of glucose-6-phosphate dehydrogenase (G6PD) in the blood. This is said to be a very important enzyme, or protein, that regulates various biochemical reactions in the body.
WHAT ARE THE HARMFUL EFFECTS OF G6PD DEFICIENCY?
G6PD is also responsible for keeping red blood cells healthy so they can function properly and live a normal life span. Without enough of it, red blood cells break down prematurely. This early destruction of red blood cells is known as hemolysis, and it can eventually to hemolytic anemia.
Are there kinds of G-6-PD Deficiency?
The World Health Organization has classified the different G6PD variants according to the degree of enzyme deficiency and severity of hemolysis, into classes I-V. Class I deficiencies are the most severe. G6PD Mediterranean deficiency usually is a class II deficiency and G6PD A- deficiency is a class III deficiency. Classes IV and V are of no clinical significance. G6PD deficiency affects all races. The highest prevalence is in persons of African, Asian, or Mediterranean descent.
The severity of G6PD deficiency varies significantly among racial groups. Variants producing severe deficiency primarily occur in the Mediterranean population. African populations have milder hemolysis due to higher enzyme levels. Asian like us, also had milder forms of deficiency. What happens to people with G-6-PD Deficiency? A child with G6PD deficiency is clinically and hematologically normal most of the time, and this can be Designated as a steady-state condition. However, a rather dramatic clinical picture can develop upon ingestion of fava beans (favism) during the course of infection, or after exposure to certain oxidative agents. With infection or drugs the clinical picture may be more complicated thar with favism. After a lag of hours, the child may become fractious and irritable or subdued and even lethargic. Within 24 to 48. hours the child’s temperature is often moderately elevated. Nausea,
abdominal pain, diarrhea, and rarely vomiting may be present.
In striking contrast to these relatively nonspecific symptoms, the patient or a parent will observe, within 6 to 24 hours, the telltale and rather frightening event that the urine is discolored. lt will be reported as dark, as red, brown, or black, or as “passing blood instead of water; Physical examination may reveal Little more than the signs corresponding to these symptoms. The child will be pale and tachycardic; in severe cases there may be evidence of hypovolemic shock or, less likely, heart failure. The spleen is usually moderately enlarged, and the liver may also be enlarged; either or both may be tender.
How is G-6-PD Diagnosed?
The diagnosis is almost always straightforward, and it can be made quite confidently even before obtaining the final proof that the patient is G6PD deficient. Although the clinical picture of favism and other forms of AHA associated with G6PD deficiency is characteristic, the final diagnosis must rely on direct demonstration of decreased activity of this enzyme in red cells. Fortunately, the enzyme assay is very easy, and numerous “screening tests” can be used as substitutes however a spectrophotometer is a gold standard.
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How Is G6PD Deficiency Treated?
Treatment for G6PD deficiency consists of removing the trigger that is causing symptoms. If the condition was triggered by an infection, then the underlying infection is treated accordingly. Any current medications that may be destroying red blood cells are also discontinued. Once the underlying cause is treated or resolved, symptoms of G6PD deficiency usually disappear within a few weeks.
Once G6PD deficiency has progressed to hemolytic anemia, however, more aggressive treatment may be required. This usually includes oxygen therapy and a blood transfusion to replenish oxygen and red blood cell levels. You will need to stay in the hospital while receiving these treatments, as close monitoring of severe hemolytic anemia is critical for ensuring a full recovery without complications.