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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.
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.
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.
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.
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.