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 haemochromatosis. If you want to follow along with written notes on this topic,

you can follow along at zero tofinals.com slash hemachromatosis or in the gastroenterology section of the zero defiance medicine book.

Let's get straight into it.

Hemachromatosis is an iron storage disorder

that results in excessive total body iron

and the deposition of iron in tissues. The human hemacromatosis protein,

which is abbreviated to HFE, is encoded by a gene that's located on the chromosome 6,

and the majority of cases of hemachromatosis relate to mutations in this gene.

However, there are other genes that can also cause the condition.

The hemacromatosis genetic mutation is inherited in an autosomal recessive way, and the gene is important in regulating iron metabolism

in the body, which is why it causes an iron storage disorder. So what is the presentation of

hemacromatosis? Well, hemachromatosis usually takes a bit of time before enough iron builds up in the body for it to become symptomatic.

So it usually presents after the age of 40.

And it actually presents later in females due to menstruation, acting to regularly eliminate blood and iron from the body.

So it takes longer for those iron stores to

build up to the point where it causes symptoms. And these symptoms usually come on after the

menopause. So what kind of symptoms do you get? Well, they can present with chronic tiredness,

joint pain because of iron deposits in the joints causing arthritis.

They can present with pigmentation or a bronze discoloration of their skin because of the iron

deposits in the skin.

They can present with hair loss.

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