What is sickle cell disease, and why is it so painful? Two Gene Therapies Approved!



Healthy - A person with sickle cell disease has inherited a copy of a faulty hemoglobin gene from each parent. 

This faulty gene causes red blood cells to become hard, sticky, brittle, and crescent-shaped (like a sickle, or farming tool) instead of the usual smooth, round, and flexible shape.

Brittle cells break down faster, which leads to anemia, a condition in which the blood doesn’t have enough healthy red blood cells. 

This reduces oxygen flow to the body’s organs and causes symptoms such as fatigue and dizziness.

“These sticky and brittle sickle cells scratch up the sides of the blood vessels and cause inflammation,” Dr. Calhoun says. 

“They can also block the blood vessels. If the blood can’t get where it needs to go to nourish the organs within the body, that leads to chronic damage.”

All of this causes pain that can range from dull to intense, leading to a sickle cell crisis, which can sometimes be eased by medication or a hospital stay. 

“We talk a lot about pain with sickle cell disease because it’s unpredictable and is what affects patients’ quality of life the most,” Dr. Calhoun says.

All newborns in the U.S. are screened for SCD with a simple blood test; when family members have a history of SCD, babies can be diagnosed in utero. 

Medications and blood transfusions have been used to manage complications and pain associated with SCD, but such treatments are not enough for many patients with the disease, the doctors say.***

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