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 haemachromatosis. And you can find written notes on this topic at

zero tofinals.com slash haemochromatosis or in the gastroenterology section of the second edition of the zero to finals medicine book.

So let's get straight into it.

Hemachromatosis is an autosomal recessive genetic condition resulting in iron overload.

There is excessive total body iron and deposition of iron in the tissues.

It's an iron storage disorder.

The human hemochromatosis protein, or HFE gene, is located on chromosome 6.

The majority of cases of hemachromatosis relate to C2-82y mutations in this gene.

Mutations are required in both copies of the gene,

meaning that the patient needs to be homozygous for the gene mutation,

since it's an autosomal recessive condition.

This gene is important in regulating iron metabolism.

Let's talk about the presentation.

Emachromatosis usually presents after the age of 40 when the iron overload becomes symptomatic.

It presents later in females due to menstruation

acting to eliminate iron from the body on a regular basis.

It presents with chronic tiredness,

joint pain,

pigmentation of the skin,

causing a bronze discoloration of the skin,

testicular atrophy, erectile dysfunction, amenorrhea, which is the absence of periods in women, cognitive symptoms

...