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Sunday, May 15, 2011

A Family Doctor's Tale -G6PD DEFICIENCY

DOC I HAVE G6PD DEFICIENCY

G6PD Deficiency  is an inherited disorder of the Red blood cells which has a lack of the glucose-6-phosphate dehydrogenase enzyme.

This causes the red blood cells to burst (hemolysis) in certain circumstances when certain food, herbs or medicines are taken.

It is a lifelong disease and there is no cure for it.

10 per cent of the world population is believed to have it.


It is  more common in Asians and Africans, less so in Caucasians.

There are 2 types of G6PD Deficiency:
1.G6PD Deficiency major which is a serious illness which occurs as a sex linked genetic disease affecting the males.

2.G6PD Deficiency minor occurs in the females and can also cause red blood cells break up as in the the major form of the disease.

Here the female can pass the gene to the male child(resulting in the major illness) and the female child(resulting in the female child as the carrier of the gene).

Not all mothers with the gene will pass it to the son or daughter.

The  risk of G6PD Deficiency is:
G6PD Deficiency results from a defective gene which provides for the enzyme in the red blood cell which preserve the integrity of the red blood cell.

When the child takes certain food, herbs or chemicals, the absence of the enzyme cause the red blood cell to burst resulting in hemolytic anemia, release of bilirubin and passing of blood through the urine.

If both parents has this faulty gene then the male child will have G6PD Deficiency major and the female child may have the minor illness which allows her to pass the gene to her son.

If the female parent has the faulty gene then the child may have the gene passed to him or her.

If only male parent has the faulty gene then the child will not have the gene passed to him or her.

The red blood cells are normal sized and breaking up easily under certain circumstances to cause a severe anemia.

Triggers which can cause an attack of red blood cells breakup (hemolysis) in G6PD Deficiency are:
1. Certain food - fava beans (also known as broad beans)


2. Chinese herbs especially Huang Lian

3. Medicines
a. Sulphonamides, septrin

b. Antimalaria drugs such as chloroquine, quinine,

c.analgesics such as aspirin,

d.Non-sulphonamide antibiotic such as nalidixic acid, nitrofurantoin, isoniazide, dapsone

4.naphthalene or moth balls

5.some bacterial or viral infections


The symptoms of hemolysis in G6PD Deficiency are:
1.Anemia - pale

2.blood in the urine

3.vomiting

4.abdominal pain

5.Slight jaundice

6.rapid heart beats , lethargy and symptoms of shock


Diagnosis of G6PD Deficiency is often based on
1. blood test for G6PD deficiency - rapid fluorescent spot test detecting the generation of NADPH from NADP

2. microscopic examination of red blood cells(Heinz bodies can be seen in G6PD deficient patients red blood cells)


3. Genetic analysis

The complications of hemolysis in G6PD Deficiency are:

1. Anemia

2. damage to liver

3. shock and death

The treatment of hemolysis in G6PD Deficiency is:
1.Blood transfusion

2.treatment for shock

3.Folic acid to build up the blood


The prognosis of hemolysis in G6PD Deficiency is:

Prognosis is good if treatment is early.

The patient must take care of himself or herself and remembers what are the food, medicines or herbs he cannot take.

Prevention of G6PD Deficiency is by:
1.testing cord blood for G6pd deficiency at birth


2.patient education of his condition and avoidance of certain food or medicines.

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