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0:00
I'm Sophie Lanzkron, I am the Director of
the Sickle Cell Center for Adults at Johns Hopkins,
and I'm going to talk about the "Management of Sickle Cell Disease" today.
0:10
I'm going to start by describing
the pathophysiology of vaso-occlusive crises in sickle cell disease,
talk a little bit about recognizing the clinical presentation of vaso-occlusive crisis,
and then talk about guideline-based care for adults with sickle cell disease.
0:25
I'm going to do that in the context of a patient.
So let me introduce you to JP.
He's a 23-year-old male with hemoglobin SS disease.
He presents reporting typical vaso-occlusive crisis type pain in his arms and legs.
He was last hospitalized two weeks ago.
His medications include hydromorphone,
4 mg every 4-6 hours as needed,
and folic acid 1 mg a day.
He's talking to his mom when you walk in the room,
when he sees you he crawls into a ball and starts to complain of 8/10 pain.
0:54
Sickle cell anemia is due to a single base substitution of a valine for
a glutamine at the sixth amino acid of the gene encoding for the hemoglobin Beta- chain.
It affects approximately 100,000 Americans,
but millions are affected worldwide.
In the United States compared to the general population,
it decreases life expectancy by 25-30 years.
Interestingly, a recent study shows that
the sickle mutation occurred once 7,300 years ago,
and the reason that the gene mutations has survived is because having
sickle trait provides a significant survival advantage against Falciparum malaria.
So if you are born with sickle trait,
you're far more likely to survive having malaria than if you don't have sickle trait.
1:36
Here is the hemoglobin molecule.
It is made up of two Alpha-chains and two Beta-chains.
The mutation we're talking about occurs in the Beta-globin chain.
