Hello and welcome to the Zero to Finals podcast. My name is Tom and in this episode I'm going to be

talking to you about G6 PD deficiency. And if you want to follow along with written notes on this

topic, you can follow along at zero definals.com slash G6PD deficiency or in the hematology section of the zero defiance pediatrics book.

So let's get straight into it.

G6PD deficiency is a condition where there's a defect in the G6PD enzyme that's normally

found in all cells of the body.

It's more common in Mediterranean, Middle Eastern and African patients.

The condition is inherited in an X-linked recessive pattern,

meaning it usually affects males as they only have a single copy of the gene on their

single X-chrome zone.

The condition causes crises that are triggered by

infections, medications or father beans, which are broad beans. A tom tip for you, the key piece of

knowledge for G6PD deficiency relates to triggers. In your exams, look out for a patient who becomes

jaundice and anemic after eating broad beans, developing an infection or being treated with

anti-malarial medications. The underlying diagnosis might be G6 PD deficiency. Let's talk about

the path of physiology. The G6 PD deficiency. Let's talk about the pathophysiology. The G6 PD enzyme is responsible for

helping protect cells against damage by reactive oxygen species or Ross. Reactive oxygen species are

reactive molecules that contain oxygen, produced by normal cell metabolism and in higher

quantities during stress on the cell.

The G6pd enzyme is particularly important in red blood cells.

The deficiency in G6PD makes cells more vulnerable to reactive oxygen species, leading to hemolysis in red blood

cells. Periods of increased stress on the cell where there's a higher production of reactive

...