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  • 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 cellswhich are normally round, like balloonsbecome 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.

Sickle cell disease is a group of inherited blood disorders.

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鐮狀細胞是什麼原因造成的......我們又是如何治療的? (What Causes Sickle Cell...and How Are We Treating It?)

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    林宜悉 發佈於 2021 年 01 月 14 日
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