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 if you want to follow along with written notes on this topic,

you can follow along at zero definals.com slash thalassemia or in the hematology section of the

zero to finals pediatrics book.

So let's get straight into it.

Thalassemia is a genetic condition that causes defects in the protein chains that make up hemoglobin.

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

Defects in the alpha-globin chains lead to alpha-thalassemia,

and defects in the beta-globin chains lead to beta-thalassemia. Both alpha and beta-thalcemia are autosomal recessive conditions. 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. The spleen acts as a sieve to filter the blood and remove older blood cells. In patients with thalassemia, the spleen collects all the destroyed red blood cells

resulting in spleenomegaly.

The spleen gets clogged up full of all the waste products from those broken down red blood cells.

The bone marrow in patients with thalassemia expands to produce extra red blood cells. The bone marrow in patients with thalassemia expands to produce

extra red blood cells to compensate for the chronic anemia. This causes a susceptibility to

fractures and prominent features such as a pronounced forehead and malar eminences, which are

the cheekbones.

Let's talk about potential signs and symptoms.

Patients with thalassemia will have a micracitic anemia with a low mean corpuscular volume.

They may also present with fatigue, pale skin and pale conjunctiva, jaundice, gallstones, spleenomegaly,

poor growth and development, and a pronounced forehead and malar eminences.

How do we establish a diagnosis?

...