This is your GenerationHbD, HbE, Hb0 7 Hemoglobin is a protein in red blood cells that helps carry oxygen through the body. Sickle hemoglobin, HbS, causes red blood cells to become

Start taking charge of sickle cell disease (SCD) by understanding the science behind it.

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Actual Members of Generation S.

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This is your Generation

• Sickle cell disease (SCD) is one of the most common genetic blood disorders in the United States

• More than half of the sickle cell community lives in just 10 states:

California New York

Florida New Jersey

Georgia North Carolina

Louisiana Pennsylvania

Maryland Texas

You’re not alone So many others are impacted by sickle cell

PEOPLE IN THE UNITED STATES HAVE SCD

100,000ABOUT

“ I have a great passion for my fellow sickle cell community. It breaks my heart to see anyone

going through so much pain, especially when you know how the pain feels. Hold on, keep the faith, and take care of yourself.” – Lisa B, Generation S Member

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About

1 in 365African Americans

is born with SCD

About

1 in 16,300Hispanic Americans

is born with SCD

About


is born with sickle cell trait

About


is born with SCD

About


is born with SCD

About



About


is born with SCD

About


is born with SCD

About



People of African ancestry make up 90% of the population with sickle cell disease in the United States. However, sickle cell disease also affects people of Hispanic, South Asian, Southern European, and Middle Eastern ancestry.

SCD is more than 3 times as common as other genetic disorders in the United States

100,000 people have SCD

29,000 people have cystic fibrosis

20,000 people have hemophilia

Facts about sickle cell disease

Sickle cell disease is an inherited blood disorder. That means if someone has sickle cell disease, it was passed down through genes from their birth parents.

Genes are the code that builds the body. For example, eye color is determined by a set of genes from birth parents. Another set of genes determines how red blood cells are made and how they work. Those genes are called the hemoglobin [hee-muh-gloh-bin] genes, named after the hemoglobin protein in red blood cells that helps carry oxygen through the body.

Each birth parent provides one hemoglobin (Hb) gene. Normal hemoglobin is called HbA. HbS is a change to the normal Hb gene. An abnormal HbS gene causes red blood cells to become sickle shaped, which can limit the amount of oxygen the red blood cells can carry through the body.

The hemoglobin gene inherited from each birth parent is very important because it can cause:

• Sickle cell disease

• Sickle cell trait, but not having sickle cell disease

• Not having sickle cell disease and not carrying the sickle cell trait

The sickle cell story starts with genetics

“ My mother and father both carried the sickle cell trait, and I was born with the full disease.

However, my twin sister just has the trait. It’s a very painful and aggressive disease, but

my faith is even more aggressive.” – Angelow H, Generation S Member

Parent 1 Parent 2

Trait carrier

Trait carrier

KEY

Child

Normal HbA

Sickle HbS

Chance to not haveSCD or trait

25%Chance to have the trait

50%Chance to have SCD

25%

5

It is important to understand that these chances remain the same each time two sickle cell trait carriers have a child. If the couple’s first child has sickle cell disease, a second child has the same chance of being born with the disease.

Here is how HbSS, the most common type of sickle cell disease, can be passed from birth parents to their child.

Different genes, different types of sickle cell disease

The term "sickle cell disease" actually refers to a group of blood disorders caused by “sickled” hemoglobin, HbS. HbS is what all people with sickle cell disease have in common. There are, however, different types of sickle cell disease. The specific type of sickle cell disease that someone has depends on the kind of hemoglobin, in addition to the abnormal HbS gene, they inherit from their birth parents.

HbSS, which comes from both birth parents passing on HbS, is the most common type of sickle cell disease, but is not the only type. That is because in addition to HbS, there are other changes to the hemoglobin gene that birth parents can pass on to their children. Two examples are HbC and Hbß-thalassemia [thal-uh-see-mee-uh]. Like HbS, those genes limit how much oxygen red blood cells can carry through the body.

Any combination of HbS passed on with another hemoglobin gene, such as HbC or Hbß-thalassemia, can result in sickle cell disease. The graphic on the following page shows the different types of SCD that can be inherited.

“ All my life I thought I had SCD SS, but I don’t. I have SCD beta-thalassemia. I want all sickle cell disease patients younger than me to know their type of sickle cell disease.” – Demetrice B, Generation S Member

HbSS

HbSC

HbSß- thalassemia

HbSD, HbSE, HbS0

• About 65% of people in the United States who have SCD• Also called sickle cell anemia• The most common and typically the most severe type of

sickle cell disease

• About 25% of people in the United States who have SCD• Typically not as severe as HbSS, though severity varies from

person to person

• Between 2% and 8% of people in the United States who have SCD

• There are two types of HbSß-thalassemia: 0 thalassemia + thalassemia

• 0 is usually more severe than +, though severity varies from person to person

• The severity of these rare types of sickle cell disease varies=

=

=

=+

+

+

+

HbS

Parent 1

HbS

HbS

HbS

HbS

Parent 2

HbC

Hbß-thalassemia

HbD, HbE, Hb07

Hemoglobin is a protein in red blood cells that helps carry oxygen through the body. Sickle hemoglobin, HbS, causes red blood cells to become stiff and sickle shaped, which affects how healthy blood flow can be.

Normal red blood cells look like discs. The disc shape helps red blood cells squeeze through small blood vessels without being damaged. By keeping their healthy disc shape, red blood cells can carry oxygen through the body.

Why is hemoglobin so important?

“ I can plan a day with my kids but then my body has other plans. It can be a lot of pressure

especially with very small kids who don’t know what is wrong with Mommy. All they know is I can’t play and I’m tired.” – Destiny W, Generation S Member

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The body tries to make new red blood cells to replace the ones that break apart. Unfortunately, it is hard for the body to produce new blood cells fast enough. That creates a problem called anemia [uh-nee-mee-uh], which makes people feel weak and tired. When anemia is severe, blood transfusions may be necessary.

The breaking apart of red blood cells is called hemolysis [hi-mol-uh-sis]. While hemolysis is normal (everyone’s red blood cells break apart in time), it happens more quickly and more often in people who have sickle cell disease.

A red blood cell that is disc shaped can live in the bloodstream for up to 4 months. A sickled red blood cell, however, can break apart in fewer than 3 weeks.

Sickled red blood cells are not stable. The sickle shape makes it hard to squeeze through small blood vessels without bursting.

There’s more to the science of sickle cell disease than sickled red blood cells. Keep reading.

Sickle cell disease goes beyond red blood cells. The disease has a silent, ongoing, effect on blood vessels and other blood cells and platelets, too. Read on to find out more.

From an early age, SCD starts to damage and inflame the blood vessels. Damaged blood vessels become irritated and activate molecules in the blood called selectins [si-lekt-ins]. You can think of selectins as “sticky factors.” These sticky factors are what cause blood cells to stick to blood vessel walls and to each other.

As more and more blood cells get sticky, the cells get stuck to each other and to the vessel walls. This process can form clusters in the bloodstream.

multicellular adhesion

A doctor may say

1. Stickiness 2. Clusters

Sickle cell disease makes blood “sticky”

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The clusters build up and become blockages, making it difficult for blood and oxygen to flow normally in the vessels. This process of clusters forming and becoming blockages is ongoing.

vaso-occlusion [vey-soh uh-kloo-zhun]

Pain crises are what you see and feel, but there’s so much more under the surface of sickle cell disease

A doctor may say

vaso-occlusive crisis, or VOC. [vey-soh uh-kloo-siv]

A doctor may say

3. Blockages 4. Pain Crises

Flow is blocked

When blood cell clusters get big enough, they can cause episodes of sudden, unpredictable, and intense pain called pain crises.

Pain crises can come on without warning and may require medical help. Also, when blood flow slows or gets blocked during a crisis, there can be more health risks over time, like organ damage and organ failure.

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Sickle cell disease has the potential for a widespread impact on the body and mind, and overall health. The impact can be short-lived such as the pain of a pain crisis, or associated with acute and chronic complications such as organ damage and organ failure.

SUDDEN, UNPREDICTABLE,

AND INTENSE PAIN

Pain crisis or vaso-occlusive crisis

KIDNEY FAILURE

Renal dysfunction or failure

ONGOING RESPIRATORY

PROBLEMS

Acute chest syndrome

RISK FOR STROKE

Cerebral infarction [suh-ree-bruh l

in-fahrk-shuh n]

DAMAGE TO THE

HIP BONES

Avascular necrosis[a-vas-kyuh-ler

nuh-kroh-sis]

A doctor may say

How sickle cell disease may affect health

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Sickle cell trait carriers may face fewer and less severe health complications. They may not experience any complications.

A sickle cell trait carrier may be at increased risk for:

• Kidney cysts (saclike buildup of fluid) • A blood clot in the lungs• Heat stroke• Damage to the spleen (the risk for this

is greatest when oxygen levels are low, such as in places high above sea level).

What are possible health effects for trait carriers?

IN MEN, PROLONGED ERECTIONS

Priapism[prahy-uh-piz-uhm]

DAMAGE TO THE BLOOD

VESSELS OF THE EYES

Retinopathy[ret-n-op-uh-thee]

INCREASED RISK OF DEPRESSION;

ANXIETY; DIFFICULTY WITH

MENTAL TASKS

Mental health

Ongoing pain crises can impact physical, mental, and emotional health and create a risk for long-term health problems

• Remember that you’re not alone—health care teams, family, and friends can help with the emotional and social challenges of SCD

• Consider joining a support group to learn and share tips about living with SCD

• Try to reduce, or avoid, stressful situations, get plenty of rest, and work with a doctor to create an exercise plan

• Wash your hands, eat safely prepared food, and get vaccines to avoid getting sick

• Try to avoid very hot or very cold temperatures

• Stay hydrated (drink 8 to 10 glasses of water a day) and eat healthy foods

• See a hematologist, someone who specializes in blood disorders like SCD

• Talk to a doctor regularly about managing SCD

• When a pain crisis happens, seek medical help

Get treated

Stay healthy

Take care of yourself

Helpful tips

15

The organizations listed below are proud partners of Generation S. These groups can help provide ongoing support for people living with sickle cell disease. Visit their websites for more information.

“ Sickle Cell Disease is having a local support group that gives people a chance to meet fellow warriors. It’s getting

thanked by a fellow warrior because they no longer feel alone. It’s having a whole community of warriors, caregivers, and advocates supporting you in ways you never imagined.” – Dominique G, Generation S Member

SCDAA

sicklecelldisease.org

Sickle Cell 101

sc101.org

Sick Cells

sickcells.org

Sickle Cell Community Consortium

sicklecellconsortium.org

Bold Lips for Sickle Cell

boldlipsforsicklecell.com

Generation S is proud to partner with the sickle cell community

Be heard

• Share experiences of living with sickle cell disease with family, friends, and

health care teams

Be seen

• Regularly visit a doctor and create a plan to help manage sickle cell disease.

Looking for a doctor? Check out GetSickleCellHelp.com

Stay informed• Be comfortable talking about sickle cell disease by understanding the

science behind it

This is your Generation

Novartis Pharmaceuticals CorporationEast Hanover, New Jersey 07936-1080 © 2019 Novartis 3/19 SDC-1208213

Share your story with Generation S at GenSickleCell.com! Together, we’re turning the page on the silence surrounding sickle cell disease.

Actual Members of Generation S.

Documents

This is your GenerationHbD, HbE, Hb0 7 Hemoglobin is a protein in red blood cells that helps carry oxygen through the body. Sickle hemoglobin, HbS, causes red blood cells to become