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Medgeeks with Andrew Reid

Hereditary Elliptocytosis

Medgeeks with Andrew Reid

Medgeeks

Medicine, Health & Fitness, Education

4.8996 Ratings

🗓️ 30 September 2024

⏱️ 9 minutes

🧾️ Download transcript

Summary

Hereditary elliptocytosis, a blood disorder marked by abnormally shaped red blood cells, can significantly impact quality of life. In this episode, we delve into the world of elliptocytosis, exploring its causes, symptoms, and the challenges faced by those living with this condition.

Common symptoms include fatigue, anemia, jaundice, and abdominal or splenic pain. Diagnosis typically involves a blood test examining red blood cell shape and size. Treatment may include medications, blood transfusions, and potentially splenectomy.

Join Dr. Niket Sonpal as we discuss this rare, genetic blood conditon.

Transcript

Click on a timestamp to play from that location

0:00.0

In April of 1663, Galileo was condemned and trialed because of his opinion that turned out to be true,

0:07.4

that the sun lies motionless at the center of the universe,

0:10.5

that the earth is not at the center and moves around it in an elliptical fashion.

0:15.0

Turns out he was right, but that misunderstanding between the two parties led to his death.

0:20.0

But he was 100% correct. It turns out that the Earth's orbit or revolution is an

0:25.9

ellipse with the Earth and the Sun being at the focus. It has an eccentricity of about 0.167, which is so close to zero, that the center of the orbit of the Earth

0:37.2

is actually relatively close to the center of the Sun, and we know that because of the Earth's

0:42.3

and Sun's relationship because of the Earth's and Sun's relationship because of the Sun's extreme amount of gravity.

0:46.4

And that elliptical orbit is what kind of gives us our topic today.

0:50.0

It turns out in medicine we have our own ellipses but they have to do with red blood cells and that brings us to our topic of hereditary elliptocytosis

0:58.0

I'm Dr Niketson Paul your friendly-neabored internist and gastrantroologist and let's kick off this week's podcast with our next topic on

1:04.2

hereditary ellipitosis.

1:06.4

So what is hereditary ellipitosis?

1:09.1

Well we know it's a red blood cell disorder that's inherited and basically the red blood cells are

1:14.2

elongated elliptical shaped and have some problems with hemolysis. Now you might be thinking this sounds similar to spherocytosis and it kind of is very similar in the sense that the genetic alterations affect the alpha or beta spectrum proteins or some other proteins that are a little less common. the because of that scaffolding internally. Whereas in hereditary elliptocytosis,

1:55.0

the red blood cells actually have a change in the structure of the proteins,

1:58.0

but it's more so affecting its function.

2:00.0

The cells struggle to regain their normal biconcave shape due to the loss of the elastic recoil.

2:07.0

So when it goes through arteries and veins, and then it gets to really tight itty bitty little capillaries, they get squeezed into these little shapes,

2:15.2

kind of like a cartoon character, and then they stay as ellipticites.

2:18.8

Then later on they get entrapped and they get eliminated by the spleen, and this can lead to a lot of destruction and

2:24.3

intravascular homolysis.

...

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