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G6PD deficiency


Types and clinical signs

This is a common disease in the Middle East. It causes anemia mainly following ingestion of certain substances such as fava beans, aspirin, and many other drugs. The disease can be diagnosed relatively easily immediately after birth. Affected individuals are given a list of drugs they are forbidden to take and foods that they are forbidden to eat, because abstinence from these substances prevents the manifestation of the disease (anemia). The presence of one copy of the mutation in carriers usually gives a certain amount of protection from malaria.

Inheritance pattern

X-linked - there are rare cases of autosomal inheritance.

Penetrance

Almost always complete.

Associated features that can be demonstrated in tests performed during pregnancy

There are usually no defects.

What is the risk of recurrence in a subsequent pregnancy?

A mother who has an affected child has a 50% risk in every pregnancy with a male fetus that he will be affected.

Females who carry the mutation rarely express it.

When they do, it is due to a combination of a father with G6PD and a carrier mother.

Fifty percent of the daughters of such a couple will have two copies of the abnormal gene since they have received one from each parent.

There are a number of rare conditions in which the defect is not on the X chromosome but on an autosomal chromosome.

Molecular genetic information

The gene for the disease

G6PD.

Location

Chromosome Xq28.

Genetic testing

Diagnostic testing

There is no need to carry out diagnostic testing as a test can be performed after birth to measure the level of the enzyme - if this is deficient the patient is affected. If indicated, the molecular defect can be identified in a research setting, and the gene sequence can be established. See information sheet: Finding the defect (mutation) by establishing the gene sequence - X-linked disease.

Carrier testing

This is usually not required.

Fetal testing

This is not necessary - see under diagnostic testing.
 
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