Fantastic News!

A Year In, 1st Patient To Get Gene-Editing For Sickle Cell Disease Is Thriving…this is Huge!

If you’re worry about getting this Disease, things may have just got better.  How?  Gene-Editing!  I’m so happy something good has come about.  I pray that other Diseases will have good News soon too.  What is it?

A group of disorders that cause red blood cells to become misshapen and break down.
With sickle cell disease, an inherited group of disorders, red blood cells contort into a sickle shape. The cells die early, leaving a shortage of healthy red blood cells (sickle cell anemia), and can block blood flow causing pain (sickle cell crisis).

Here’s an exert-

https://www.npr.org/sections/health-shots/2020/06/23/877543610/a-year-in-1st-patient-to-get-gene-editing-for-sickle-cell-disease-is-thriving

The billions of genetically modified cells doctors infused into her body clearly appear to be alleviating virtually all the complications of her disorder, sickle cell disease.

“It’s wonderful. It’s the change I’ve been waiting on my whole life,” Gray tells NPR, which has had exclusive access to chronicle Gray’s experience over the past year.

Sickle cell disease, a rare blood disorder that disproportionately affects African-Americans in the U.S., can be very difficult to treat effectively.

https://www.cdc.gov/ncbddd/sicklecell/facts.html

Here’s an exert-

Types of SCD

Following are the most common types of SCD:

HbSS

People who have this form of SCD inherit two sickle cell genes (“S”), one from each parent. This is commonly called sickle cell anemia and is usually the most severe form of the disease.

HbSC

People who have this form of SCD inherit a sickle cell gene (“S”) from one parent and from the other parent a gene for an abnormal hemoglobin called “C”. Hemoglobin is a protein that allows red blood cells to carry oxygen to all parts of the body. This is usually a milder form of SCD.

Infographic: 5 Facts You Should Know About Sickle Cell Disease
HbS beta thalassemia

People who have this form of SCD inherit one sickle cell gene (“S”) from one parent and one gene for beta thalassemia, another type of anemia, from the other parent. There are two types of beta thalassemia: “0” and “+”. Those with HbS beta 0-thalassemia usually have a severe form of SCD. People with HbS beta +-thalassemia tend to have a milder form of SCD.

There also are a few rare types of SCD:

HbSD, HbSE, and HbSO

People who have these forms of SCD inherit one sickle cell gene (“S”) and one gene from an abnormal type of hemoglobin (“D”, “E”, or “O”). Hemoglobin is a protein that allows red blood cells to carry oxygen to all parts of the body. The severity of these rarer types of SCD varies.

Sickle Cell Trait (SCT)

HbAS

People who have SCT inherit one sickle cell gene (“S”) from one parent and one normal gene (“A”) from the other parent. This is called sickle cell trait (SCT). People with SCT usually do not have any of the signs of the disease and live a normal life, but they can pass the trait on to their children. Additionally, there are a few, uncommon health problems that may potentially be related to sickle cell trait.

Learn more about sickle cell trait »

Cause of SCD

SCD is a genetic condition that is present at birth. It is inherited when a child receives two sickle cell genes—one from each parent.

Diagnosis

SCD is diagnosed with a simple blood test. It most often is found at birth during routine newborn screening tests at the hospital. In addition, SCD can be diagnosed before birth.

Because children with SCD are at an increased risk of infection and other health problems, early diagnosis and treatment are important.

You can call your local sickle cell organization to find out how to get tested.