How does sickle cell disease affect the body?
Sickle cell disease changes the shape of red blood cells, which can lead to stroke. Find out how else sickle cell disease can affect the body in this video with HealthMaker Gary Gibbons, MD, director of the National Heart, Lung, and Blood Institute.
Transcript
Sickle cell disease was the first molecular disease where we actually knew the genetic defect, over 70 years ago now.
And although we've had that information, there wasn't a lot that it really translated into in terms of to treating it.
But now in the 21st century, those tools are now becoming available. [MUSIC PLAYING]
Sickle cell disease is a heritable disorder passed on from parent to child that relates to a mutation in a protein called hemoglobin.
Actually, it gives red blood cell blood its red color. And it's critical in carrying oxygen
to all the tissues in your body. The sickle cell disease individuals have a mutation, a misspelling, of that gene
and have an abnormal hemoglobin. It actually causes the red blood cell to sickle, have this curved shape instead
of the normal discoid shape, as a result. It causes complications, in which, for example,
a child with sickle cell disease is at risk of a stroke. So this can be a devastating disorder.
It can affect literally every organ in the body, complications affecting the heart, the lung, the kidney, the bones.
The challenge is, of course, that we have unfinished business that we're envisioning, rather boldly, to have a stroke-free generation
of children born with this mutation. In fact, as part of the United States newborn screening
program, it's routinely picked up for all newborn who are born in this country. In that sense, the diagnosis is often made earlier.
Back in the '70s, the normal life expectancy was not very good beyond childhood.
It was a devastating disorder. Now, it's in the 40s or 50s because of these interventions that have proven to be effective.
And we're excited about the fact that new technologies are emerging. Some gene-editing technologies and advances
in bone marrow transplantation being done on safer protocols, that may in fact give that
hope for a cure in the future. [AUDIO LOGO]
sickle cell anemia
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