Sickle cell disease is a group of inherited blood disorders.
In fact, it's the most commonly inherited blood disorder in the world
affecting millions of people worldwide.
Once upon a time Sickle Cell was almost impossible to live with but today, we know a lot more
about it and it turns out, something as simple as H2O can help keep it in check.
Sickle Cell was actually the first molecular disease, identified in Chicago in 1910.
It got its name from the mutations of red blood cells
into versions that resemble a sickle.
Red blood cells – which are normally round, like balloons - become misshapen and rigid.
And that can be triggered by a number of things, causing damage throughout the body.
- The problem with the red blood cells taking on the sickle or misshapen shape, is also
that they are very sticky, so the cells can really damage the vessel walls as they flow
through the blood vessels.
My name is Marsha Treadwell.
I'm a clinical psychologist and clinical scientist at UCSF Benioff Children's Hospital in Oakland.
I've been working with the sickle cell community for about 20 years.
Sickle cell disease: the disorder is related to the hemoglobin.
Hemoglobin is the molecule in red blood cells that delivers
oxygen to cells throughout the body.
Atypical hemoglobin molecules called hemoglobin S distort red blood cells into that sickle
or crescent shape.
Again, healthy red blood cells are round, and they move through small blood vessels
to carry oxygen to all parts of the body.
Hemoglobin consists of four protein subunits, two called alpha-globin and two others called
beta-globin.
- In sickle cell disease, there is a genetic mutation in the beta-globin chain.
The beta-globin gets replaced by hemoglobin S, and that's what leads to the red blood
cell taking on this rigid shape.
Sickle cell is an inherited disease following an autosomal recessive pattern.
So if two parents have the sickle cell trait, they might not show symptoms of the disease, but
with each pregnancy, their child has a 25% chance of having sickle cell.
Sickle Cell is common all over the world, but there are populations that are more
affected, such as those originating from Africa, India, the Mediterranean, Middle East and
South America.
And in the US, one in 365 African-Americans are affected, and one in over 16,000 Hispanic-American
births are affected.
There are different forms of sickle cell disease, the most common of which are Hemoglobin SS,
Hemoglobin SC and Hemoglobin Beta Thalassemia.
Hemoglobin SS is often the most severe form of the disease but all of these different
forms can present with symptoms such as anemia or pain throughout the body, as well as a
number of life-threatening complications.
The severity of symptoms can vary depending on the number of cells that are taking on
that sickle shape, triggered by things like infection, changes in temperature, and dehydration.
- When a person gets dehydrated then that hastens that removal of the oxygen and then results
in the red blood cells becoming rigid and misshapen.
Again, infection can cause the same thing, but also you can enhance the anemia by those
red blood cells dying in response to infection.
And then there’s stress...
- Under stress, your blood vessels are going to constrict.
Again, that's going to make the flow of the sickle cells really challenging.
So we now know what’s happening on a cellular
level, but what does Sickle Cell feel like?
- Well, if you've ever had a muscle cramp when you've been exercising, just imagine
that feeling throughout your whole body.
What happens is that again, with the clogging of those blood vessels, then you're interrupting
the oxygen flow to that part of the body.
Let's say that I have an obstruction at this part of my arm, then I'm going to have trouble
with the blood flowing beyond that place and so that causes pain.
The other thing is that it causes damage to organs, so kidney damage...
You can have acute chest syndrome, which is sickling in the lungs.
You can have damage to the bones because the oxygen flow is interrupted.
You can have damage to the eye because of the vessels flowing to the eye.
You can have stroke because of the damage to the big vessels
that flow to the brain.
One issue is that really as people age, they have more severe disease.
The body just becomes broken down as there's just an accumulation of damage
to the different organs.
While these symptoms are alarming, there are ways to manage this disease.
And it boils down to this:
- Hydration is big.
We know hydration works.
I will say, about diet, that with any chronic condition, it's really important to have your
body in the best shape possible.
You really have to go above and beyond what most of us really should be doing in terms
of adequate exercise, appropriate diet, and drinking eight to 10 glasses of water.
This also includes getting plenty of sleep, learning how to manage stress and knowing
your risk factors.
There are also a lot of treatment therapies for Sickle Cell and even a potential cure.
- There is a cure for sickle cell.
The cure is bone marrow transplantation or stem cell transplantation.
How that works is that a donor's stem cells are harvested from their bone marrow, and
then it's put into the individual's with sickle cell disease whose bone marrow has been what's
called ablated or destroyed, so that the new stem cells are going to take hold in the person
and then they'll produce healthy red blood cells.
But this kind of a procedure has big risks, and it's not commonly available, mainly because
finding a matching donor can be difficult.
However, there are new therapies on the horizon that inspire some hope.
- The new therapies, the gene therapies, that are under investigation currently look very
promising because what they do is actually take the individual's own stem cells, edit
the gene, and then your own stem cells are put back into the marrow
so that the new, healthy red blood cells can grow.