What is sickle cell disease?

Sickle cell disease results from a hemoglobin mutation. In this video, HealthMaker Gary Gibbons, MD, director of the National Heart, Lung, and Blood Institute, describes why sickle cell disease is so debilitating.

Transcript

00:00

Sickle cell disease is a heritable disorder passed on from parent to child that relates to a mutation in a protein called hemoglobin.

00:07

It actually gives red blood cells-- blood-- its red color. [MUSIC PLAYING]

00:18

It's critical in carrying oxygen to all the tissues in your body. Sickle cell disease individuals who have a mutation, a misspelling, of that gene

00:27

and have an abnormal hemoglobin actually causes the red blood cell to sickle, have this curved shape instead

00:33

of the normal discoid shape. As a result, it causes complications in which, for example, a child with sickle cell disease

00:42

is at risk of a stroke. You're used to thinking about a 77-year-old having a stroke. Sickle cell-- a seven-year-old could have a stroke.

00:50

Maybe 1 in 5 children may show evidence of a stroke on a head scan.

00:56

So this can be a devastating disorder, affect literally every organ in the body, complications affecting the heart, the lung, the kidney,

01:05

and the bones. And so a big problem, affecting millions of individuals

01:11

all over the world-- no race ancestry group is spared, though it does predominantly have

01:17

an impact in sub-Saharan Africa where malaria is endemic. And indeed, it probably was selected for because those who

01:25

are just carriers, who have sickle cell trait-- just one normal copy and one mutated copy-- were actually protected from the effects of malaria.

01:34

And so that's why it probably became more prevalent. But then, for example, African-Americans in this country who are no longer exposed

01:40

to malaria, again, and then developed the two copies of this mutation, have this disorder

01:48

with all its devastating complications. [AUDIO LOGO]