The gene that codes for G6PD is located in the
distal long arm of the X chromosome at the Xq28 locus
. The G6PD gene is 18 kilobases (kb) long with 13 exons, and the G6PD enzyme has 515 amino acids.
What mutation causes G6PD?
592C > T was the most common mutant which accounted for more than 50% of the G6PD gene mutation, and the mutation type in other ethnic groups were relatively rare, which indicated that every region or nation had its own characteristics. Mutation in G6PD deficiency was
almost single nucleotide substitution
.
What gene causes G6PD deficiency?
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is caused by
mutations in the G6PD gene
. This gene gives the body instructions to make an enzyme called G6PD, which is involved in processing carbohydrates. This enzyme also protects red blood cells from potentially harmful molecules called reactive oxygen species.
Is G6PD a gene?
G6PD deficiency is inherited
. This means it is passed down from parents through their genes. Women who carry one copy of the gene can pass G6PD deficiency to their children. Men who get the gene have G6PD deficiency.
How is G6PD inherited?
G6PD deficiency is inherited in
an X-linked recessive manner
. X-linked recessive conditions are much more common in males, who have only one X chromosome (and one Y chromosome ). Females have two X chromosomes , so if they have a mutation on one of them, they still have one X chromosome without the mutation.
What is a hemolytic?
Hemolysis is
the destruction of red blood cells
. Hemolysis can occur due to different causes and leads to the release of hemoglobin into the bloodstream. Normal red blood cells (erythrocytes) have a lifespan of about 120 days. After they die they break down and are removed from the circulation by the spleen.
Why does deficiency of the G6PD gene lead to hemolytic anemia?
It is when
the body doesn't have enough of an enzyme
called G6PD (glucose-6-phosphate dehydrogenase). This enzyme helps red blood cells work correctly. A lack of this enzyme can cause hemolytic anemia. This is when the red blood cells break down faster than they are made.
Where is the G6PD gene located?
The G6PD gene is located
on the long arm (q) of the X chromosome (Xq28)
. X-linked disorders affect males and females differently. A male has one X-chromosome and if he inherits an X chromosome that contains a disease gene, he will develop the disease.
What happens when G6PD is triggered?
This can cause
tiredness, dizziness
, and other symptoms. Red blood cells that don't have enough G6PD are sensitive to some medicines, foods, and infections. When these things trigger a quick loss of red blood cells over a short time, it's called a hemolytic crisis.
The most common medical problem associated with glucose-6-phosphate dehydrogenase deficiency is
hemolytic anemia
, which occurs when red blood cells are destroyed faster than the body can replace them.
Is hemolytic anemia genetic?
Hemolytic anemia
can be inherited or acquired
: Inherited hemolytic anemia happens when parents pass the gene for the condition on to their children. Acquired hemolytic anemia is not something you are born with. You develop the condition later.
What is G6PD carrier?
When a female inherits a gene for G6PD deficiency she is referred to as a carrier because
she has a second normal copy of the gene
(from the other parent) that can often compensate for the altered gene. Female carriers may or may not experience symptoms of G6PD deficiency.
Can a person with G6PD get the Covid vaccine?
Like routine vaccines, COVID-19
vaccines can be safely administered to people with G6PD deficiency
. Clinical trials and vaccine rollouts around the world have not identified any specific concerns regarding COVID-19 vaccines and people with G6PD deficiency.
Is G6PD tested at birth?
Neonatal testing for
G6PD deficiency is not yet routine
and the American Academy of Pediatrics recommends testing only in jaundiced newborns who are receiving phototherapy whose family history, ethnicity, or geographic origin suggest risk for the condition, or for infants whose response to phototherapy is poor.
What happens if G6PD eat fava beans?
This can cause fatigue, yellowing of the skin and eyes, and shortness of breath. In people with G6PD deficiency,
hemolytic anemia
can occur after eating fava beans or certain legumes.
Can G6PD drink alcohol?
In conclusion, the present study suggests that patients with G6PD
deficiency should avoid ethanol intake
. If they consume any ethanol, they should not be administered oxidant drugs such as analgesics and antipyretic, which frequently inhibit G6PD activity.
