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G6PD Screening for Infants and Children

G6PD Screening for Infants and Children

G6PD Screening for Infants and Children

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder where a person has a lower than normal level of this red blood cell enzyme. Red blood cells carry oxygen from the lungs to tissues throughout the body. This enzyme helps red blood cells work properly and keep them intact by reducing oxidative stress from accumulation of harmful oxygen species during normal metabolism.

When people with G6PD deficiency are exposed to stresses such as infections, certain drugs and substances and ingestion of fava beans (broad beans), it can increase the levels of reactive oxygen species causing premature breakdown of red blood cells (haemolysis).

Testing for G6PD deficiency should be suggested when an acute haemolytic reaction occurs that is precipitated by exposure to a known trigger, either in children or in adults, particularly if they belong to the affected ethnic groups. Moreover, members (especially males) of families where jaundice and splenomegaly are recurrent should be tested for G6PD deficiency. Newborn babies with severe prolonged neonatal jaundice, those belonging to Mediterranean or African ancestry in particular, are quite likely to have G6PD deficiency.

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