Sickle Cell

FDA approves first new sickle cell medication in 20 years

Endari™ (L-glutamine oral powder) recently (July 7, 2017) received
FDA approval as the first new medicine to treat sickle cell disease
(SCD) in 20 years. Endari has been shown to decrease the number of
sickle cell crises and hospitalizations in patients with sickle cell
disease. Doctors expect it to be available for patients in the late fall
of 2017.

Sickle cell disease affects millions of people worldwide. People with
African, Spanish, Mediterranean and Indian ancestry are at increased
risk. Approximately 120,000 infants are born with sickle cell disease
every year.

In the U.S., approximately one in 500 African Americans and one in
1,200 Hispanic Americans are born with sickle cell disease.
Approximately two million Americans — including about eight-to-12
percent of the African American population — are carriers of the
disease. Carriers of the disease are said to have the “sickle cell
trait.”

What exactly is SCD and what causes it?

“Sickle” red blood cells are curved like the farm tool of the same name.

SCD is an inherited condition where the proteins that carry oxygen
(hemoglobin) are defective. These defective proteins change the shape of
red blood cells from the normal round shape to an odd “sickle” shape.

The job of red blood cells is to carry oxygen throughout the body so
that the body can function at its best. Normally, red blood cells flow
smoothly through blood vessels. Without oxygen, the red blood cells form
the odd sickle shape and clump and block blood vessels and the tissues
downstream are damaged.

Signs of blockage, known as a “sickle cell crisis,” include
excruciating pain, anemia, skin ulcers, excruciating organ damage,
stroke, lung complications, and a syndrome known as “acute chest
syndrome” (ACS), which may be potentially fatal and is the leading cause
of death among people with SCD.

Because sickle cell disease is inherited (given from parent to
child), an affected person has to get one defective sickle cell gene
from each of their parents. If a person only has one sickle cell gene,
they are said to be a “carrier” and do not have the disease or effects
of the disease, except in very rare, extreme cases. As a carrier, you
can pass the gene on to your children.

When both parents possess the sickle cell trait, each pregnancy has
the following odds: a 25 percent chance of producing a child with sickle
cell disease; a 25 percent chance of producing a child with neither
sickle cell trait nor sickle cell disease; and a 50 percent chance of
producing a child with sickle cell trait.

When only one parent has SCD, and the other has the sickle cell
trait, each pregnancy has a 50 percent chance of producing a child who
has either the sickle cell trait or sickle cell disease.

How is SCD diagnosed?

A simple blood test can show whether a person has sickle cell
disease. Most states test for sickle cell disease before infants go home
from the hospital. Doctors cannot predict which symptoms a child born
with sickle cell disease will have, when they will start, or how serious
they will be. There are three sub-types of sickle cell disease with
similar clinical pictures.

Can SCD be prevented?

One can avoid or minimize the effects of the disease by avoiding
situations that can exacerbate the disease such as high altitude,
increased atmospheric pressure, low oxygen situations, cigarette smoke
exposure, severe dehydration and extreme exercise.

How is SCD treated?

Patients with sickle cell disease will have a lifelong struggle
fighting many associated health problems such as pain, skin ulcers,
infections, anemia, organ problems and stroke. Nevertheless, many
patients can have an excellent quality of life by learning to
appropriately care for themselves and effectively manage the disease.

The best treatment is to prevent the attacks associated with the
disease as outlined above. Early treatment includes daily antibiotics
from ages two months to five years to prevent infections. Immunizations
are also very important.

Many doctors will develop a pain management plan for their patients
with the disease. Sometimes, periodic blood transfusions are helpful to
reduce the risk of stroke and treat the symptoms of anemia (feeling weak
and tired). A bone marrow transplant may also be an effective treatment
in certain patients.

The most important thing a person with sickle cell disease can do is
make sure they are receiving regular medical examinations with a
physician who is an expert in treating the disease.

The good news

As mentioned above, the drug Endari has recently received FDA
approval as the first new medicine to treat SCD in 20 years.  Endari has
demonstrated its ability to reduce the most severe complications of
sickle cell disease (SCD) in both adults and children age five and
older. The FDA notes that some common side effects of Endari include
nausea, constipation, headache, stomach pain, cough and body pain.

Endari works by reducing stress damage to red blood cells, which also
reduces the formation of sickled blood cell shapes. Significantly, it
is only the second FDA-approved drug to treat SCD, a serious and
debilitating disease, and is now the first treatment available for the
pediatric population.

Action steps for anyone with SCD

Talk to your doctor about the new medication, Endari™ (L-glutamine oral powder). Ask if it is appropriate for you.Learn
what sets off painful events, such as dehydration, extreme exercise,
cold exposure, long plane flights, high altitudes, and cigarettes.

Take antibiotics as instructed. Maintain a complete immunization schedule.

If you have a child with sickle cell disease, make sure caregivers
and teachers know of their special requirements, including frequent
drinks and bathroom trips and avoiding overexertion and cold
temperatures.

Locate a good support group near you or via the internet to reduce the familial stress the disease may cause.

Develop a good working relationship with a physician who is
comfortable and good at managing the condition. Develop a pain
management plan with your doctor.

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