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 thalassemia.

And you can find written notes on this topic at zero to finals.com or in the hematology section

of the second edition of the zero to finals medicine book.

So let's get straight into it.

Thalasemia is caused by a genetic defect in the carrier proteins that make up hemoglobin.

Normal hemoglobin consists of two alpha-globin and two beta-globin chains.

Defects in alpha-globin chains lead to alpha-thalassemia and defects in the beta-globin chains

lead to beta-thalcemia.

Both conditions are autosomal recessive. The overall effect is varying

degrees of anemia depending on the type and the mutation. In patients with thalassemia,

the red blood cells are more fragile and they break down more easily causing hemolytic anemia.

The spleen acts like a sieve filtering the blood and removing old cells.

The spleen in thalassemia collects all the destroyed red blood cells and this results in spleenomegaly

as the spleen enlarges full of all the destroyed red blood cells and this results in spleenomegaly as the spleen enlarges full of all the destroyed

red blood cells. Let's go through the features. The severity of features depends on the type of

thalassemia. Universal features include a microcytic anemia with small red blood cells, fatigue, palor, or pale skin,

jaundice, gallstones, spleenomegaly or an enlarged spleen, and poor growth and development in children.

Next let's talk about the investigations.

Microcytic anemia, where there's a low, mean corpuscular volume,

is a typical finding on a full blood count.

Raised ferretin suggests iron overload,

...