What is G6PD deficiency?
G6PD deficiency is an inherited disease that can cause anaemia, or
a low haemoglobin level. The abnormal gene is carried on the X
chromosome and so the condition is much commoner in males. It is a
common condition in north India, particularly among Punjabis and
the people who have migrated from Pakistan.
G6PD deficiency is a condition in which the red blood cells lack
the enzyme glucose-6-phosphate dehydrogenase (G6PD). This enzyme
acts as an accelerator to speed up the chemical reaction that
burns the sugar for energy. This enzyme is present in all the
cells of the body.
G6PD found in the red blood cells, and protects these cells
against strong oxygen compounds (oxidants) that may collect in
case of a fever or when certain medicines are taken. In the
absence of G6PD, these strong compounds may damage some components
of the red blood cells such as the red pigment, called haemoglobin.
This damage reduces the ability of the red blood cells to carry
oxygen. In some cases the cells may get destroyed resulting in
anaemia.
What are the causes?
G6PD deficiency is inherited and is found in both males and
females. Males are more severely affected.
Sudden attacks of G6PD deficiency can be caused by any serious
illness and certain medicines such as:
What are the symptoms?
Some people with G6PD deficiency show no symptoms at all. People
with this disorder are not normally anaemic and show no evidence
of the disease until the red blood cells are exposed to an oxidant
or stress. In others, the signs and symptoms may include:
* Anaemia
* Prolonged and severe jaundice in the new-born: an abnormal
yellow colour of the skin and eyes that is present in the first
few days after birth
* An enlarged spleen or liver
* Weakness and severe fatigue
* Pain in the abdomen or back
* Dark urine
* Fever and chills
In severe cases there may be:
* Rapid heart beat and low blood pressure
* Kidney failure
* Congestive heart failure, a condition in which the heart is
unable to pump blood effectively to all parts of the body
How is the diagnosis made?
The G6PD deficiency is suspected when symptoms like jaundice and
anaemia occur. The doctor may suggest tests to check the level of
haemoglobin in blood and urine, bilirubin levels and serum
hepatoglobin. Blood tests include complete blood count, red blood
cell count and reticulocyte counts. Other tests such as peripheral
blood smear, methylene blue test and methaemoglobin reduction test
may also be conducted.
A specific diagnosis can be made by measuring the amount of G6PD
activity in the red blood cells. In some cases, a blood test
called protein electrophoresis may need to be done to confirm the
diagnosis.
What is the treatment?
Most people with G6PD deficiency do not need regular treatment.
However, the treatment depends on the cause and the symptoms. If
the cause for the acute episode is an infection, it should be
treated and in case the cause is a drug, it needs to be either
stopped or replaced. The genetic defect cannot be cured at
present.
Other treatments include oxygen, fluids, or medication to treat
problems such as congestive heart failure or kidney failure. Blood
transfusion and surgery of the spleen may be needed in some cases.
A treatment called iron chelation therapy may be needed if iron
overload occurs. This therapy helps the body to get rid of excess
iron. Persons affected by G6PD deficiency must carry a card with
the diagnosis so that the treating doctor is alerted before any
drug is started.
Healthcare Provider
Glucose 6 Phosphate
Dehydrogenase (G6PD) deficiency, in babies
All of the male newborns also undergo a test for
G6PD
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