G6PD Deficiency
Glucose-6-phosphate dehydrogenase deficiency
(abbreviated as G6PD deficiency) is a common inherited
disorder characterized by a lack of the enzyme, glucose-
6-phosphate-dehydrogenase. An enzyme is a type of
protein that helps produce chemical reactions in the
body. Normally, the G6PD enzyme produces chemicals
that protect the red blood cells against the effects of
stress. Red blood cells help carry oxygen in the blood.
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Without G6PD, the red blood cells burst, which leads to hemolytic anemia. Hemolytic
anemia is a condition in which the red blood cells are destroyed earlier than they should
be, resulting is a low red blood cell count. This results in an abnormally low amount of
hemoglobin in the blood. Hemoglobin is substance present in red blood cells that help
carry oxygen to cells in the body.


The general signs and symptoms of G6PD deficiency may include tiredness, pale skin,
rapid heart rate, shortness of breath, dark urine, enlarged spleen, and jaundice. The
spleen is an organ next to the stomach that helps fight infection and removes and
destroys worn-out red blood. Jaundice is a yellow staining of the skin, whites of the eyes,
deeper tissues, mucous membranes, and waste that is discharged from the body. A
mucous membrane is one of four major types of thin sheets of tissue that line or cover
various parts of the body, such as the mouth and passages for breathing.

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It is important to note, however, that some people with G6PD
deficiency do not develop symptoms unless the red blood cells are
exposed to certain chemical substances such as antibiotics, anti-
itching drugs, anti-malaria drugs, or other drugs with oxidant
features (meaning they can damage red blood cells). Malaria is a
serious disease caused by parasites that is spread by mosquitoes.
Fava beans and mothballs also contain oxidants and can also
trigger the breaking up of red blood cells in patients with G6PD
deficiency. Technically, an oxidant is a compound that readily gives
up oxygen or attracts hydrogen or electrons (negatively charged
particles) from another compound.

G6PD is cased by an inherited abnormality, meaning it is passed down from one's parents. Technically,
G6PD deficiency is categorized as x-linked recessive. This means that the full form of the disease only
occurs in males, although females can carry the gene that causes the disease and can experience some
mild to moderate symptoms. Genes are units of material contained in a person's cells that contain coded
instructions as for how certain bodily characteristics (such as eye color) will develop. All of a person's
genes come from his/her parents. Genes can either be dominant or recessive. A gene that masks the
effect of another gene is called a dominant gene. The gene whose expression is masked is known as a
recessive gene.

Genes are contained in structures called chromosomes. Each person has 23 pairs of chromosomes,
meaning that there are 46 chromosomes in total. One of each pair of chromosomes is inherited from the
mother and one of each pair is inherited from the father. The first 22 pairs of chromosomes (known as
autosomes) are not involved in determining sex. The 23rd pair of chromosomes, however, is involved in
determining sex.

The 23rd pair of chromosomes consist of X and/or Y chromosomes. An X chromosome is shaped like an
X, whereas a Y chromosome is shaped like a Y. If a person has two X chromosomes, the person will
develop as a female. If a person has an X and a Y chromosome, the person will develop as a male. The X
chromosome is much larger than the Y chromosome. The X chromosome has a few thousand genes
whereas the Y chromosome has only a few genes. For this reason, most of the genes on the X
chromosome have no counterpart on the Y chromosome.

The genes of the Y chromosome are not capable of masking the expression of genes from the X
chromosome. In females, however, the genes of one X chromosome are capable of masking the effects of
the genes on the other X chromosome.

In females, one X chromosome is inherited from the mother and one from the father. In males, the X
chromosome is inherited from the mother and the Y chromosome is inherited from the father. Thus, in
males who have diseases due to abnormal genes on the X chromosome, the disease has been passed on
from mother to son. The reason why the mother does not have the full form of the disease is because she
has a dominant gene on the second X chromosome that partially or fully protects her from the effect of the
recessive gene that causes G6PD deficiency.


The key to treatment is avoiding the medication or substance (e.g., fava beans, mothballs) that triggers
the symptoms. There is often a complete recovery when such a treatment approach is used. Individuals
are sometimes treated with oxygen while resting in bed. In more severe cases, a blood transfusion and
decreased physical activity may be needed. A blood transfusion is a procedure in medicine in which blood
(usually from another person) is introduced into someone's bloodstream


Glucose-6-phosphate dehydrogenase deficiency is also known as G6PD deficiency.
Red blood cells shown.