ABOUT SICKLE CELL

About Sickle Cell Disease

Sickle Cell Disease

Sickle Cell Disease (SCD) is a chronic, inherited red blood cell disorder. The red blood cells have an abnormal crescent or half-moon shape, block small blood vessels, and do not last as long as normal red blood cells. The blocked blood flow through the body can lead to severe problems, including stroke, eye problems, infections, and episodes of pain called pain crisis.

SCD is a lifelong illness. People with SCD start to have signs of the disease in the first year of life, usually around five months of age. Early symptoms of SCD may include jaundice, fatigue, and painful swelling of the hands and feet.

Enlarging the spleen may worsen anemia and reduce its protection against pneumonia and meningitis. Blood transfusions are used to treat severe anemia. People with SCD may need immunizations and/or antibiotics to fight certain types of serious infections.

SCD management focuses on preventing and treating pain episodes and other complications. Prevention strategies include lifestyle behaviors, medical screening, and interventions to prevent SCD complications.

About Sickle Cell Anemia

Sickle Cell Anemia

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).

The most common type of sickle cell disease issues:

Hand-foot syndrome
(dactylitis)
Fatigue
Pain, plus
Eye problems
The blockage of the blood vessels in the eye caused by sickle cells can severely damage the retina and may lead to blindness.
Jaundice
Yellowing of the skin and eyes, which is caused by the rapid breakdown of red blood cells. This produces excessive amounts of bilirubin in the body.
Infections
Sickle cells can damage the kidneys and other body organs. When the kidneys become damaged, it is hard for the body to hold water.

Children and adults with sickle cell anemia are more vulnerable to infections and have harder time fighting infections once they start.

Vulnerability to infections is the result of damage to the spleen from the sickled red cells. This prevents the spleen from destroying bacteria in the blood.
Infants and young children are especially susceptible to bacterial infections.
- Bacterial infections can kill in as little as 9 hours from the onset of fever.

Pneumococcal infections were the principal cause of death in young children with sickle cell anemia.
Deaths were reduced when physicians routinely gave penicillin (prophylactic penicillin) to infants identified at birth or in early infancy with sickle cell anemia.

Stroke

Sickle cell causes damage to the walls of the blood vessels by sticking to them.
- This action restricts the flow of blood to the brain, causing a stroke.
- This type of stroke occurs primarily in children.

Acute chest syndrome

Acute chest syndrome is a life-threatening complication of sickle cell anemia, similar to pneumonia.

This syndrome is caused by:
- infection, or
- Sickled cells trapped in the lungs.
- This syndrome is characterized by:
  - Chest pain
  - fever, and
  - Abnormal chest x-rays.

What persons with sickle cell anemia should do?

It is important for those with sickle cell to stay hydrated. Drinking water promotes healthy blood flow and reduces the chance of our red blood cells sickling and sticking together. It keeps our blood cells supple, so they can move more freely within our blood vessels.

Water is the best fluid, but also helpful is:

Milk
Soup
Fruit
Sports drinks, and
Juice (that is more alkaline).

Avoid caffeine.

Caffeine can cause the kidneys to release more water into the urine.

Important symptoms

Fever is usually an important indicator of infections.

Infections can present a life-threatening situation for individuals with sickle cell.

See a doctor or healthcare provider immediately — especially if a child with sickle cell has a fever of 101° or higher.

Signs of fever in babies include:

Extreme crankiness
Incessant crying
Rapid breathing
Screaming even when touched or held by family members
Lack of energy
Poor appetite
A decrease in wet diapers (which indicates dehydration)

What is folate and why is it important?

Folate, often called folic acid, is one of the most important of all vitamins.

Folic acid helps make red blood cells
Folic acid helps renew all the cells in the body.

When the body does not have enough folate, many health problems can result.

The body’s ability to take in important nutrients can decrease, and the production of new red blood cells can be impacted.

About Beta Thalassemia Disease

Beta Thal

About Sickle Cell Beta Thalassemia Disease in patients with sickle cell Beta Thalassemia Disease, there is a decrease in hemoglobin production which causes smaller red blood cells.

When Beta Thalassemia genes are in combination with the sickle gene, it is known as Sickle Cell Beta Thalassemia Disease.

There are two kinds of Sickle Cell Beta Thalassemia Disease (SBTHAL):

Sβ+THAL
Sβ°THAL.

Individuals with Sβ+THAL have:

• Spleens that function

• Fewer infections

• Fewer pain episodes, and

• Less organ damage due to Hemoglobin "A" (Normal) not being completely suppressed.

Individuals with Sβ°THAL have:

•Very severe disease — The same as Sickle Cell Anemia.

Spleens that stop working later in childhood
Enlargement of the spleen is common in adulthood.

•Pain episodes

Organ damage
Prognosis may be similar to, or even worse, for bone and eye problems with compared to sickle cell anemia.

About Hemoglobin Disease

Hemoglobin

Individuals with Hemoglobin E Disease will have:

Smaller than normal red blood cells and target cells
Mild to moderate anemia
Slightly enlarged spleen

Normally, individuals with Hemoglobin E Disease have no health problems.

About Athletes with Sickle Cell Trait

Athletes

Sickle Cell Trait (SCT) is not a disease. SCT is the inheritance of one gene for sickle hemoglobin and one for normal hemoglobin. SCT will not turn into the disease. SCT is a life-long condition that will not change over time.

During intense exercise, red blood cells containing the sickle hemoglobin can change shape from round to quarter-moon, or “sickle.”
Sickled red cells may accumulate in the bloodstream during intense exercise, blocking normal blood flow to the tissues and muscles.
During intense exercise, athletes with sickle cell trait have experienced significant physical distress, collapsed, and even died.
Heat, dehydration, altitude, and asthma can increase the risk for and worsen complications associated with sickle cell trait, even when exercise is not intense.
Athletes with SCT should not be excluded from participation, as precautions can be implemented.

DO YOU KNOW IF YOU HAVE SICKLE CELL TRAIT (SCT)?

People at high risk for having SCT are those whose ancestors come from Africa, South or Central America, India, Saudi Arabia, and the Caribbean and Mediterranean countries.

SCT occurs in about 8 percent of the U.S. African American population and between one in 2,000 to one in 10,000 in the Caucasian population.
Most U.S. states test at birth, but most athletes with SCT don’t know they have it.
The NCAA recommends that athletics departments confirm all student-athletes SCT status.
Knowledge of SCT status can be a gateway to education and simple precautions that may prevent collapse among athletes with SCT, allowing you to thrive in your sport.

For more information and resources, visit ncaa.org/sports/2021/2/10/health-and-safety.aspx

HOW CAN I PREVENT A COLLAPSE?

Know your sickle cell trait status.
Engage in a slow and gradual preseason conditioning regimen.
Build up your intensity slowly while training.
Set your own pace. Use adequate rest and recovery between repetitions, especially during “gassers” and intense station or “mat” drills.
Avoid pushing with all-out exertion over two to three minutes without a rest interval or a breather.
If you experience symptoms such as muscle pain, abnormal weakness, undue fatigue, or breathlessness, stop the activity immediately and notify your athletic trainer and/or coach.
Stay well hydrated at all times, especially in very hot and humid conditions.
Avoid using high-caffeine energy drinks, supplements, or other stimulants, as they may contribute to dehydration.
Maintain proper asthma management.
Refrain from extreme exercise during acute illness, if feeling ill, or while experiencing a fever.
Beware when adjusting to a change in altitude, a rise in altitude of as little as 2,000 feet. Modify your training and request that supplemental oxygen be available to you.
Seek prompt medical care when experiencing unusual physical distress.

About Sickle Cell & Pregnancy

Sickle Cell Pregnancy

What you need to know

Before having a baby, a woman and her partner should get tested for sickle and

other abnormal hemoglobin. This information is important because children

born into the family may be at risk for a disease that causes severe pain and many

health complications. Many couples can be carriers for sickle cell trait and give birth

to children with sickle cell disease (SCD).

About 1 in 12 Black or African-American babies is born with sickle cell trait.
About 1 in 100 Hispanic American babies is born with sickle cell trait.
SCD occurs in about 1 out of every 365 Black or African-American births.
SCD occurs in about 1 in out of every 16,300 Hispanic-American births.

If you're already pregnant, prenatal testing is available after the second month of pregnancy. Providers can perform an amniocentesis test and a chorionic villus sampling test to determine genetic disorders. The test results tell you whether the baby

is a carrier for sickle cell trait, has sickle cell disease, or other abnormal hemoglobin.

Pregnancy Concerns

Women with sickle cell disease are considered to have high-risk pregnancies and need close monitoring by their health care providers. During pregnancy, they are likely to have complications, which can affect their health or the health of their unborn baby. Women with sickle cell trait normally have a healthy pregnancy and should be monitored by a health care provider for complications associated with pregnancy.

Health Complications

Children and persons with sickle cell disease (SCD) start to have signs of the disease during the first year of life, usually around 5 months of age. Early symptoms of SCD may include jaundice, fatigue, and painful swelling of the hands and feet.

In persons with SCD, there is a problem with the hemoglobin, which causes a shortage of oxygen throughout the body. This lack of oxygen can cause severe pain, anemia ( a lack of iron), infection, and organ damage; including enlargement of the spleen. Blood transfusions are used to treat severe anemia.

Children and persons who have sickle cell trait do not have sickle cell disease, nor will the trait change into the disease. Sickle cell trait typically does not cause any health problems however, under certain conditions sickling may occur. These conditions include significant hypoxia (a severe shortage of oxygen at high altitudes), dehydration, and physical exertion.

Family Planning

If one parent is normal (AA), and one has sickle cell trait (AS), there is a 50% chance the child will be normal and there is a 50% chance the child will have sickle cell trait.

If both parents have sickle cell trait (AS), there is a 25% chance the child will be normal (AA); there is a 50% chance the child will have sickle cell trait (AS); and a 25% chance for sickle cell anemia (SS).

If one parent has sickle cell trait (AS) and one has hemoglobin C trait (AC), there is a 25% chance the child will be normal (AA); a 25% chance the child will have sickle cell trait (AS); a 25% chance for hemoglobin C trait (AC), and a 25% chance the child will have sickle cell hemoglobin C disease (SC disease).

If one parent has sickle cell trait (AS) and one has beta-thalassemia trait (AβTHAL), there is a 25% chance the child will be normal (AA); a 25% chance the child will have sickle cell trait (AS); a 25% chance the child will have beta thalassemia trait (AβThal); and a 25% chance of sickle cell beta thalassemia disease (SβThal).

What do I do now?

Get yourself and your family tested to see if you carry the trait for abnormal hemoglobin. If you take the test, ask your provider to perform hemoglobin electrophoresis for accurate results. See your provider or call the Foundation for genetic counseling about your test results. This provides you with the facts to make an informed decision about having children.

To take a sickle cell test, visit sicklecellga.org/gettested.