2. What Causes Sickle Cell Disease?

SCD is inherited in the same way that people get the color of their eyes, skin, and hair.

• A person with SCD is born with it.
• People cannot catch SCD from being around a person who has it.

 

Who Is Affected By Sickle Cell Disease?

• It is estimated that SCD affects 90,000 to 100,000 people in the United States, mainly Blacks or African Americans.
• The disease occurs among about 1 of every 500 Black or African American births and among about 1 out of every 36,000 Hispanic-American births.
• SCD affects millions of people throughout the world and is particularly common among those whose ancestors come from subSaharan Africa; regions in the Western Hemisphere (South America, the Caribbean, and Central America); Saudi Arabia; India; and Mediterranean countries such as Turkey, Greece, and Italy.

What Health Problems Does Sickle Cell Disease Cause? 

The following are some of the most common complications of SCD:

• “Pain Episode” or “Crisis”: Sickle cells don’t move easily through small blood vessels and can get stuck and clog the blood flow. This causes pain that can start suddenly, be mild to severe, and last for any length of time.
• Infection: People with SCD, especially infants and children, are more likely to experience harmful infections such as flu, meningitis, and hepatitis.
• Hand-Foot Syndrome: Swelling in the hands and feet, often along with a fever, is caused by the sickle cells getting stuck in the blood vessels and blocking the blood from flowing freely through the hands and feet.
• Eye Disease: SCD can affect the blood vessels in the eye and lead to long-term damage.
• Acute Chest, Syndrome (ACS): The blockage of the flow of blood to the lungs can cause acute chest syndrome. ACS is similar to pneumonia; symptoms include chest pain, coughing, difficulty breathing, and fever. It can be life-threatening and should be treated in a hospital.
• Stroke: Sickle cells can clog blood flow to the brain and cause a stroke. A stroke can result in lifelong disabilities and learning problems.

How Is Sickle Cell Disease Treated?

The goals of treating SCD are to relieve pain and to prevent infections, eye damage, and strokes.

• There is no single best treatment for all people with SCD.
  • Treatment options are different for each person depending on the symptoms.
  • Treatments can include receiving blood transfusions, maintaining a high fluid intake (drinking 8 to 10 glasses of water each day), receiving IV (intravenous) therapy (fluids given into a vein), and medications to help with the pain.
• For severe SCD,
  • a medicine call hydroxyurea might be recommended.
  • Research suggests that hydroxyurea can reduce the number of painful episodes and the recurrence of ACS.
  • It also can reduce hospital stays and the need for blood transfusions among adults who have SCD.

Is There A Cure For Sickle Cell Disease?

To date, the only cure for SCD is a bone marrow or stem cell transplant.

• A bone marrow or stem cell transplant is a procedure that takes healthy stem cells from a donor and puts them into someone whose bone marrow is not working properly. These healthy stem cells cause the bone marrow to make new healthy cells.
• Bone marrow or stem cell transplants are very risky and can have serious side effects, including death. For the transplant to work, the bone marrow must be a close match.

Complications and Treatments of Sickle Cell Disease:

People with sickle cell disease (SCD) start to have signs of the disease during the first year of life, usually around 5 months of age. Symptoms and complications of SCD are different for each person and can range from mild to severe.

• The reason that infants don’t show symptoms at birth is that baby or fetal hemoglobin protects the red blood cells from sickling.
• When the infant is around 4 to 5 months of age, the baby or fetal hemoglobin is replaced by sickle hemoglobin and the cells begin to sickle.

 

SCD is a disease that worsens over time.

• Treatments are available that can prevent complications and lengthen the lives of those who have this condition.
• These treatment options can be different for each person depending on the symptoms and severity.

 

Hydroxyurea:

• (pronounced hye droks ee yoor EE a) is a medicine that can decrease several complications of SCD.
• This treatment is very safe when given by medical specialists experienced in caring for patients with SCD.
• However, the side effects of taking hydroxyurea during pregnancy or for a long time are not completely known.

 

The Food and Drug Administration has also approved a new medicine to reduce the number of sickle cell crises in adults and children older than age five; it is called Endari (L-glutamine oral powder).

Another treatment, which can actually cure SCD,

• is a stem cell transplant (also called a bone marrow transplant); this procedure infuses healthy cells, called stem cells, into the body to replace damaged or diseased bone marrow (bone marrow is the center of the bone where blood cells are made).

 

Although transplants of bone marrow or blood from healthy donors are increasingly being used to successfully cure SCD, they require a matched donor (a person with similar, compatible bone marrow), and transplants can sometimes cause severe side effects, including occasional life-threatening illness or death. People with SCD and their families should ask their doctors about the benefits and risks of each treatment option.

1. Hand-Foot Syndrome:

Swelling in the hands and feet usually is the first symptom of SCD. This swelling, often along with a fever, is caused by the sickle cells getting stuck in the blood vessels and blocking the flow of blood in and out of the hands and feet.

Treatment:

The most common treatments for swelling in the hands and the feet are pain medicine and an increase in fluids, such as water.

2. Pain “Episode” or “Crisis”

Pain is the most common complication of SCD and the number 1 reason that people with SCD go to the emergency room or hospital. When sickle cells travel through small blood vessels, they can get stuck and clog the blood flow. This causes pain that can start suddenly, be mild to severe, and can last for any length of time.

Prevention:

There are simple steps that people with SCD can take to help prevent and reduce the number of pain crises, including the following:

• Drink plenty of water.
• Try not to get too hot or too cold.
• Also, try to avoid places or situations that cause exposure to high altitudes (for example, flying, mountain climbing, or cities with a high altitude).
• Avoid places or situations with exposure to low oxygen levels (for example, mountain climbing or exercising extremely hard, such as in military boot camp or when training for an athletic competition).
• Adults with severe SCD can take a medicine called hydroxyurea to help reduce the number of pain crises.
  • People taking hydroxyurea are checked often by a doctor to prevent complications, including an increased risk of infections.
• Research shows that babies and children with SCD can also benefit from hydroxyurea therapy.

Treatment:

Most pain related to SCD can be treated with over-the-counter pain medications such as ibuprofen and aspirin. Some people who have severe pain are given opioids (i.e. morphine) medications daily, along with additional pain medication. Some people may be admitted to the hospital for intense treatment.

3. Anemia:

Anemia is a very common complication of SCD. With SCD, the red blood cells die early. This means there are not enough healthy red blood cells to carry oxygen throughout the body. When this happens, a person might have:

• Tiredness.
• Irritability.
• Dizziness and lightheadedness.
• A fast heart rate.
• Difficulty breathing.
• Pale skin color.
• Jaundice (yellow color to the skin and whites of the eyes).
• Slow growth.
• Delayed puberty.

 

4. Infection:

People with SCD, especially infants and children, are more at risk for infections, especially those due to bacteria with capsules because of damage to the spleen. Pneumonia is a leading cause of death in infants and young children with SCD.

Prevention:

Vaccines can protect against harmful infections.

• Washing your hands is one of the best ways to help prevent getting an infection. People with SCD, their families, and other caretakers should wash their hands with soap and clean water many times each day.
• Because bacteria in some foods can be especially harmful to children with SCD, food should be prepared safely.
• Vaccines can protect against harmful infections. Children with SCD should get all regular childhood vaccines, plus a few extra. Adults should have the flu vaccine every year, as well as the pneumococcal vaccine and any others recommended by a doctor.
• Take penicillin (or other antibiotics prescribed by a doctor) every day until at least 5 years of age.

 

Treatment:

Infections are treated with antibiotic medicines and sometimes blood transfusions. At the first sign of an infection, such as a fever, it is important to see a doctor right away as this may represent a medical emergency for people with SCD. Early treatment of infection can help prevent problems.

5. Acute Chest Syndrome: