G6PD (Glucose 6 Phosphate Dehydrogenase) DEFICIENCY

When I was 18 years old I got viral hepatitis and I was not recovering from it because I am Glucose 6 phosphate Dehydrogenase Deficient and I was not aware of this at that time nor my Drs knew I had this.
My parents took me to another hospital, by the time my skin nails and eyes were so dark yellow in color, they diagnosed it, I was admitted there for a whole month , the Doctor prescribed me Folic Acid to take daily for the rest of my life.
Glucose 6 phosphate Dehydrogenase deficiency or G6PD is a genetic disorder characterized by a decreased level of glucose 6 phosphate dehydrogenase which leads to the destruction of red blood cells.
G6PD is a very important enzyme (or protein) that regulates various biochemical reactions in the body.
Normally our body produces free radicals like hydrogen peroxide (H2O2). free radicals can damage the cells in many ways including destroying the cells of DNA, protein and cell membrane.
We have a molecule in our body called glutathione which acts as an antioxidant, which neutralizes the free radicals in order to function the glutathione molecule should be in a reduced state. Where they can donate the electron to h2o2 and convert them into water and oxygen, it causes the glutathione to be oxidized.
So before it can go to work an enzyme called Glutathione reductase uses NADPH as an electron donor and reduced the oxidized glutathione back into its working state.
after giving up its electron the NADPH will become NADP +
G6PD enzyme reduces NADP + back to NADPH and oxidizes Glucose 6 Phosphate, Glucose 6 Phosphate is a metabolite of gluocose.
Our body has a ready supply of glucose 6 phosphate.
CAUSE OF G6PD Deficiency:
G6PD deficiency is caused by the mutation of G6PD gene which is found in the x chromosome.
It is x linked recessive genetic condition. and its exclusively linked with men.
As they have 1 x and 1 y chromosome. so if one and only chromosome has the mutation then they have the disorder,
Women, on the other hand, have two x chromosomes. So if the women have x chromosome has the mutation and other x chromosome is normal. thus females are usually carriers. they can transfer the disease to their sons.
The G6PD mutations can cause defective g6pd enzymes to reproduce and these have shorter half-life means they don’t last as long as the normal enzyme.
TYPES OF G6PD
- MEDITERRANEAN VARIANT
- AFRICAN VARIANT
The Mediterranean variant is characterized by more reduced half-life of glucose 6 phosphate dehydrogenase.
Sometimes it can actually be an advantage as it gives protection against FALCIPARUM MALARIA.
G6PD deficiency makes the parasite-infected erythrocyte more susceptible to dying from oxidants. which means it kills malarial parasites.
This is the only upside of G6PD it gives protection from malarial parasite.

Low levels of G6PD cause low levels of NADPH leading to low levels of reduced Glutathione.
G6PD is the only way for red blood cells to get NADPH so they are especially susceptible to damage caused by free radicals.
It causes the cell membrane to become unstable. It is called Hemolysis. Free radicals can also directly damage Hemoglobin molecules which are the oxygen-carrying proteins in red blood cells.
These damage proteins precipitate inside the cell and called Heinz bodies. The spleen macrophages that are responsible for eating up all the abnormal red blood cells notice these Heinz bodies and try to remove them by taking a bite out of the cell leaving these red blood cells partially devoured it is called bite cells.
Only older red blood cells are at risk of hemolysis.
The hemolytic episode is self-limited.
Hemolysis stops when only younger red blood cells remain.
When a red blood cell dies, its hemoglobin breaks up into globin and heme.
Heme is converted into bilirubin. Which is then taken up by the liver cells and eventually secreted out with bile.
If all of a sudden body starts breaking down more red blood cells then the liver cells can handle, the excess bilirubin stays in the blood and cause Jaundice.
Where the bilirubin deposits in skin and eyes and causes the skin and eyes yellow.
Some of the bilirubin is converted into urobilin which causes the urine yellow color if its too much of it the urine becomes more darker in color. This can result in kidney damage too.
Hemolytic episodes may develop which includes infections, viral hepatitis, pneumonia, metabolic acidosis and foods and drinks like Fava beans, Soy products.

Certain medications can also triggers this. Like Primaquine, chloroquine. Other common drugs like pain killers (Aspirin and ibuprofen), quinidine (treats arrhythmias) Antibiotic containing Sulfonamides like Trimethoprim.
Most of the patients with G6PD deficiency usually don’t experience any symptoms until they’re exposed to an oxidative stressor that is , the medication, food, or infection that triggers the early destruction of red blood cells.
DRUGS TO AVOID IN G6PD DEFICIENCY:

SYMPTOMS:
Symptoms include,
- Jaundice
- Dark color urine
- Back pain because of kidney damage
- Paleness
- Anemic symptoms like:
- Fatigue, hypotension, tachycardia, confusion
DIAGNOSIS:
Blood tests will show a finding of hemolytic anemia like
- Low levels of Red Blood Cells
- Increase levels of reticulocytes
- Increase level of lactate dehydrogenase (LDH) which is an intracellular enzyme released in the blood.
- Increase Bilirubin
- Low Haptoglobin (a molecule which binds free hemoglobin in the blood)

Blood test will show bite cells and Heinz bodies which are the characteristics of G6PD deficiency
The definitive test for g6pd diagnosis is an enzyme assay to detect the levels of G6PD
As the high risk of hemolysis, it is important to diagnose G6PD as early as possible.
In some developed countries, newborns are tested for G6PD
CURE:
G6PD Deficiency is a genetic condition and it has no cure other than avoiding triggers.
During hemolytic episode hydration , oxygen therapy and blood transfusion are opted depends on patient condition.
