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Sickle Cell Disease

What is sickle cell disease?
Sickle cell disease (SCD) is a blood disorder that a child is born with. It's passed down through a parent’s genes. Children with SCD make an abnormal type of hemoglobin. This is the protein in red blood cells that carries oxygen to all parts of the body. With SCD, the body organs and tissues don’t get enough oxygen.

Healthy red blood cells with normal hemoglobin are round and move easily through blood vessels. When a child has SCD, the red blood cells are hard and sticky. They are shaped like the letter C (and like a farm tool called a sickle). These damaged red blood cells (sickle cells) clump together. They can’t move easily through the blood vessels. They get stuck in small blood vessels and block blood flow. This blockage can cause pain. It can also damage major organs.

Sickle cells die sooner than healthy cells. Normally the spleen helps filter infections out of the blood. But sickle cells get stuck in this filter and die. Having fewer healthy red blood cells causes anemia. The sickle cells can also damage the spleen. Without a healthy spleen, children are more at risk for serious infections.
There are several complex types of the sickle cell gene. Some don’t cause symptoms or severe problems, but others do. Talk to your child’s healthcare provider about the specific form of sickle cell your child has.

Most children with SCD will start showing symptoms during the first year, often around 5 months.

What causes sickle cell disease?
Sickle cell is present at birth. It is inherited when a child has 2 sickle cell genes, 1 from each parent.
A child who has only one sickle cell gene is healthy. But he or she is a carrier of the disease. If two carriers have a child, there is a greater chance their child will have sickle cell disease.
Once parents have had a child with sickle cell disease, there is a 1 in 4 chance that another child will be born with sickle cell disease. There is also a 1 in 2 chance that a child will be a carrier, like the parents.

Who is at a risk for sickle cell disease?

Having a family history of SCD increases your risk for the disease. SCD mainly affects people whose families came from Africa, and Hispanics whose families are from the Caribbean. But the gene has also been found in people whose families are from the Middle East, India, Latin America, and Mediterranean countries. It has also been found in American Indians.

What are the symptoms of sickle cell disease ?
Most people with SCD will start to have symptoms during the first year of life, often around 5 months. Each child’s symptoms may vary. They may be mild or severe. Symptoms can include:

  • Anemia. This is the most common symptom. Having fewer red blood cells causes anemia. Anemia can make a child pale and tired.

  • Yellowing of the skin, eyes, and mouth (jaundice). This is a common symptom. Sickle cells don't live as long as normal red blood cells. They die faster than the liver can filter them out. The yellow color is caused by a substance (bilirubin) that is released when the red blood cells die.

  • Pain crisis, or sickle crisis. When sickle cells move through small blood vessels, they can get stuck. This blocks blood flow and causes pain. This sudden pain can happen anywhere, but most often occurs in the chest, arms, and legs. Babies and young children may have painful finger and toe swelling. Blocked blood flow may also cause tissue death.

  • Acute chest syndrome. This is when sickle cells stick together and block oxygen flow in the tiny vessels in the lungs. This can be deadly. It often occurs suddenly, when the body is under stress from infection, fever, or fluid loss (dehydration). It looks like pneumonia and can include fever, pain, and a violent cough.

  • Fewer red blood cells are able to move. This can cause a sudden drop in hemoglobin. It can be deadly if not treated at once.

  • Splenic sequestration (pooling). The spleen becomes enlarged and painful when sickle cells get stuck and build up there.

  • Swelling of hands and feet. The swelling is caused by sickle-shaped red blood cells blocking blood circulation in the hands and feet.

  • Delayed growth or puberty. Red blood cells provide the body with the oxygen and nutrients needed for growth. A shortage of healthy red blood cells can slow growth in infants and children and delay puberty in teenagers.

  • Vision problems. Tiny blood vessels that supply the eyes can become plugged with sickle cells. This can damage the retina — the portion of the eye that processes visual images — and lead to vision problem.

The symptoms of SCD may look like other disorders or health problems. Always see your healthcare provider for a diagnosis.

How is sickle cell disease diagnosed?
Most hospitals check newborn babies for abnormal hemoglobin as part of routine newborn screening tests. Hospital newborn screening includes tests for all newborns within the first few days of life. These tests identify serious, life-threatening diseases.

SCD may be found as part of newborn screening. Your family history, your medical history, and a physical exam are all included in the diagnosis. If the screening test shows SCD, a blood test called hemoglobin electrophoresis may be done. It can tell if you’re a carrier of sickle cell. It can also tell if you have any of the diseases linked to the sickle cell gene. Other blood tests may also be done.

How is sickle cell disease treated?
Treatment will depend on your symptoms, age, and general health. It will also depend on how severe the condition is.
Early diagnosis and preventing further problems is important in treating this disease. Your healthcare provider will refer you to a hematologist. This is an expert in blood disorders. Other specialists may also be involved in your care.

Treatment may include:

  • Pain medicines: These are used for pain crises.

  • Drinking plenty of water daily (8 to 10 glasses). This helps prevent and treat pain crises. In some cases, IV (intravenous) fluids may be needed.  

  • Blood transfusions. These are used to treat anemia, chronic pain, acute chest syndrome, and splenic sequestration, and to prevent stroke.

  • Vaccines and antibiotics. These are used to prevent infections.

  • Folic acid. This helps prevent severe anemia.

  • Regular eye exams. These are done to screen for an eye condition called retinopathy. Have your eyes checked each year?

  • Stem cell transplant. Transplants can cure some patients with SCD. Studies of this treatment are ongoing. Talk with your healthcare provider. Transplants are only done at certain medical facilities.

  • Hydroxyurea. This is a medicine that can reduce the number of sickle cells in the blood. It reduces complications, painful episodes (crises), and hospital stays.

What are the possible complications of sickle cell disease?
Complications of SCD include:

  • Long-term anemia. may lead to delayed healing and delayed growth and development.

  • Pain crisis, or sickle crisis. In severe cases, your child may need treatment in a hospital.

  • Acute chest syndrome. Over time, many episodes of acute chest syndrome can cause lasting (permanent) lung damage

  • Splenic sequestration (pooling). When red blood cells build up in the spleen, it becomes enlarged and painful. The spleen can be damaged and scarred after many episodes of splenic sequestration. By age 8, many children with SCD have had their spleen removed. Or they may have lasting damage from repeated splenic sequestration. The risk for infection is a major concern for children without a working spleen. Infection is the major cause of death in children younger than age 5.

  • Stroke. If the blood vessels to the brain are blocked, a stroke can occur. Serious long-term problems may result. A child who has had a stroke is more likely to have another one.

  • Infections. Sickle cells can damage the spleen, increasing vulnerability to infections. Infants and children with sickle cell anemia commonly receive vaccinations and antibiotics to prevent potentially life-threatening infections, such as pneumonia.

  • Priapism. The sickle cells block the blood vessels in the penis, causing great pain. If not treated right away, this can lead to the inability to have an erection (impotence).

SCD can affect any major organ. This can cause:

  • Frequent infections

  • Leg ulcers or serious sores

  • Bone damage

  • Gallstones

  • Kidney damage

  • Eye damage

  • Multiple organ failure

How can I help one live with sickle cell disease?
Advances in preventive care and new medicines have reduced the life-threatening problems of sickle cell. But it is still a severe, chronic, and sometimes fatal disease. How your managed depends on:

  • The type of sickle cell you have

  • How severe the disease is?

  • How often you have complications

  • How well you follow preventive efforts


You may not be able to fully prevent one from having complications of SCD. But helping you live a healthy lifestyle can reduce some of the problems. Make sure you have regular eye exams and gets stroke screening tests. Also talk with your healthcare provider about making sure you:

  • Eat a healthy diet

  • Get enough sleep

  • Drink plenty of fluids

Stay away from things that may trigger a crisis. These include:

  • High altitudes

  • Cold weather

  • Swimming in cold water


Help a sickler prevent infections by:

  • Staying away from people who are sick

  • Washing his or her hands often

  • Having all recommended vaccines such as pneumococcal

  • Having all recommended screenings such as hepatitis C


When should I call my healthcare provider?
Call your healthcare provider or get medical care right away if you have:

  • Sudden pain, mainly in the chest, belly, arms, or legs

  • Fever

  • Symptoms of an enlarged spleen

  • Trouble breathing

  • Sudden loss of vision

  • Symptoms of severe anemia

Key points about sickle cell disease.

  • Sickle cell disease (SCD) is an inherited blood disorder that is present at birth. This means it is passed down through a parent’s genes.

  • With SCD, the red blood cells have an abnormal C shape. They get stuck in small blood vessels and block blood flow.

  • This blockage can cause pain and lead to infection. It can also damage to your major organs, and cause a stroke.

  • Newborns are checked for sickle cell disease as part of a group of screening tests.

  • Most children will start to have symptoms during the first year of life, often around 5 months.


Next steps
Tips to help you get the most from a visit to a healthcare provider:

  • Know the reason for the visit and what you want to happen.

  • Before your visit, write down questions you want answered.

  • At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you.

  • Know why a new medicine or treatment is prescribed and how it will help you. Also know what the side effects are.

  •  Ask if your condition can be treated in other ways.

  • Know why a test or procedure is recommended and what the results could mean.

  • Know what to expect if you do not take the medicine or have the test or procedure.

  • If you have a follow-up appointment, write down the date, time, and purpose for that visit.

  • Know how you can contact your provider after office hours. This is important if you become ill and you have questions or need advice.

A note from Pan Medical Services Kampala

  • Management of SCD is focused on preventing and treating pain episodes and other complications. Prevention strategies include lifestyle behaviors as well as medical screening and interventions to prevent SCD complications.

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