Hi, this is Tom, and in this episode I'm going to be going through thalassemia.

And you can find notes at 0.0.0.5.com and in the 0.2 finals pediatrics book.

And you can find flashcards and questions at members.0.0.0.com. So let's jump straight in. Thalassemia is caused by a genetic

defect in the protein chains that make up hemoglobin. Normal hemoglobin consists of two

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

Defects in the beta-globin chains lead to beta-thalassemia. Both conditions are autosomal recessive.

Ineffective red blood cell production, which is called erythropoysis, leads to anemia.

The red blood cells are fragile and they break down easily, causing hemolytic anemia.

Spleenomegaly results from increased clearance of abnormal blood cells in the spleen,

and extra medullary hematopoysis, which is where red blood cell production occurs outside the bone marrow

in the spleen. The spleen becomes clogged up with all the abnormal cells, and there's red blood cell production in the spleen, so the spleen becomes clogged up with all the abnormal cells, and there's red blood cell

production in the spleen, so the spleen becomes large.

All pregnant women in the UK are offered a screening test for thalassemia when they

book in with a midwife.

Let's go through the features.

The severity of features very much depends on the type of thalassemia.

General features include microstic anemia with a low mean corpuscular volume, fatigue, pallor,

jaundice, gallstones, splino-megaly, and poor growth and development.

Let's talk about investigations.

Microcytic anemia with a low mean corpuscular volume is seen on a full blood count.

Hemoglobin electrophoresis is used to diagnose the globin abnormalities.

DNA testing can be used to look for the specific genetic abnormality.

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