Sickle cell disease is a serious disease in which the body makes sickle-shaped red blood cells. “Sickle-shaped” means that the red blood cells are shaped like a backwards “C”. Typical red blood cells are round and look like doughnuts without holes in the center. They are smooth and move easily through your blood vessels. Sickle-shaped red blood cells are sticky and rigid and get clogged up in veins and arteries causing excruciating pain episodes known as vaso-occlusive crises (VOC). The “sickling” of red blood cells occurs throughout the body causing damage to the kidneys, lungs, heart and almost every other organ.

For more details, please visit the Centers For Disease Control and Prevention website.

Sickle cell disease is inherited which means people with the disease get it from their parents and are born with it. People who have the disease inherit two copies of the sickle cell gene – one from each parent. Two copies of the sickle cell gene are needed for the body to make the sickle-shaped red abnormal hemoglobin found in sickle cell anemia.

• Sickle Cell Disease (SCD) is inherited from both parents in much the same way as blood type, hair color and texture, eye color and other physical traits – SCD is present at birth
• SCD is NOT contagious, SCD is not something you can “catch”.
• The types of hemoglobin a person makes in the red blood cells depend upon what hemoglobin genes the person inherits from his/her parents:
  • As shown in the diagram, when both parents have sickle-cell trait (AS), each time they have a baby, they have a 25% (1 out of 4) chance of the child having sickle-cell disease (SS).
    
  • If one parent has sickle-cell trait (AS) and the other has sickle-cell anemia (SS) and the other, there is a 50% chance (or 1 out of 2) of a child having sickle-cell disease (SS) and a 50% chance of a child having sickle-cell trait (AS).
    
  • When one parent is unaffected (AA) and the other has sickle-cell anemia (SS), all of their children will have sickle-cell trait (AS).
    
  • When one parent has sickle cell trait (AS) and the other is unaffected (AA), ), there is a 50% chance (or 1 out of 2) of a child having sickle-cell trait (AS) and a 50% chance of a child being unaffected (AA).
    

Understanding “Chance”

One way of understanding the “chance” of having a child with sickle cell is to think that each time parents have a child there is 50% “chance” (1 out of 2) that they will have a boy or a girl. This is the same chance every time they have a baby. Just because the first child is a boy does not mean the second child will be a girl.

So, in the diagrams above if there is a 25% chance that a child will have sickle cell disease, if the first child has SCD, there will still be a 25% chance the second child will have SCD and a 25% chance every time those parents have a child.

If you inherit only one copy of the sickle cell gene (from one parent), you will not have sickle cell disease. Instead, you will have sickle cell trait. People who have sickle cell trait usually have no symptoms and lead normal lives. However, they can pass the sickle cell gene to their children.

Sickle Cell Trait Complications

Most people with SCT do not have any symptoms, although—in rare cases—people with SCT might experience complications such as:

1. Pain crises
2. Hematuria (blood in the urine). If you see blood in your urine or if you receive a lab report telling you that there is blood in your urine, tell your doctor immediately. There are two types of hematuria: Gross and microscopic.
   • Gross: Someone can see the blood in their urine
   • Microscopic: Blood in the urine can only be seen through a microscope
3. A rare cancer of the kidney, Renal medullary carcinoma, also known as RMC

In their extreme form, and in rare cases, the following conditions could be harmful for people with SCT:

1. Increased pressure in the atmosphere (which can be experienced, for example, while scuba diving).
2. Low oxygen levels in the air (which can be experienced, for example, when mountain climbing, exercising extremely hard in military boot camp, or training for an athletic competition).
3. Dehydration (for example, when one has too little water in the body).
4. High altitudes (which can be experienced, for example, when flying, mountain climbing, or visiting a city at a high altitude).

More research is needed to find out why some people with SCT have complications and others do not.

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Sickle cell disease affects millions of people throughout the world. It is particularly common among people whose ancestors come from sub- Saharan Africa; Spanish speaking regions (South America, Cuba, Central America); Saudi Arabia; India; and Mediterranean countries, such as Turkey, Greece, and Italy.

In the United States, it affects approximately 100,000 people, most of whose ancestors, come from Africa. The disease occurs in approximately 1 in every 500 African-American births and 1 in every 900 Hispanic American births. Approximately 2 million Americans, or 1 in 12 African Americans, and 1 in 16 Hispanic carry the sickle cell trait.

The signs and symptoms of sickle cell disease vary. Some people have mild symptoms. Others have very severe symptoms and often are hospitalized for treatment. Sickle cell disease is present at birth, but many infants don’t show any signs until after four months of age. The most common signs and symptoms are linked to anemia and pain. Other signs and symptoms are linked to the disease’s complications.

1. Anemia. Sickle cells break apart easily and die, leaving you with too few red blood cells. Red blood cells usually live for about 120 days before they need to be replaced. But sickle cells usually die in 10 to 20 days, leaving a shortage of red blood cells (anemia). Without enough red blood cells, your body can’t get enough oxygen, causing fatigue.
2. Episodes of pain. Periodic episodes of pain, called pain crises, are a major symptom of sickle cell anemia. Pain develops when sickle-shaped red blood cells block blood flow through tiny blood vessels to your chest, abdomen and joints. Pain can also occur in your bones.The pain varies in intensity and can last for a few hours to a few weeks. Some people have only a few pain crises a year. Others have a dozen or more pain crises a year. A severe pain crisis requires a hospital stay. Some adolescents and adults with sickle cell anemia also have chronic pain, which can result from bone and joint damage, ulcers, and other causes.
3. Swelling of hands and feet. The swelling is caused by sickle-shaped red blood cells blocking blood flow to the hands and feet.
4. Frequent infections. Sickle cells can damage your spleen, leaving you more vulnerable to infections. Doctors commonly give infants and children with sickle cell anemia vaccinations and antibiotics to prevent potentially life-threatening infections, such as pneumonia.
5. Delayed growth or puberty. Red blood cells provide your 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.
6. Vision problems. Tiny blood vessels that supply your 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 problems. Click here for more information on SCD eye complications.

Source of List

Early diagnosis of sickle cell disease is critical so that children who have the disease can receive proper treatment. All 50 states and the District of Columbia now perform a simple, inexpensive blood test for sickle cell disease on all newborn infants. This test is performed at the same time and from the same blood sample as other routine newborn screening tests. Hemoglobin electrophoresis is the most widely used diagnostic test.

If the test shows the presence of sickle hemoglobin, a second blood test is performed to confirm the diagnosis. These tests also tell whether the child carries the sickle cell trait.

Yes. It is possible for doctors to diagnose sickle cell disease before birth. This is done using a sample of amniotic fluid or tissue taken from the placenta. (Amniotic fluid is the fluid in the sac surrounding a growing embryo. The placenta is the organ that attaches the umbilical cord to the mother’s womb.) This test can be done as early as the first few months of pregnancy. The test looks for the sickle cell gene, rather than the hemoglobin that the gene makes.

Chorionic Villus Sampling or CVS, is also another prenatal test. CVS is a test done during early pregnancy that can find certain genetic problems with the fetus. The test is commonly done when either you or the baby biology father has a disease that runs in the family. The test can be done as early as 10 to 12 weeks. You should consult with your physician for further information.

The goals of treating sickle cell disease are to relieve pain; prevent infections, eye damage, and strokes; and control complications (if they occur).  Please click here for treatment options.

How can family and friends of someone with sickle cell disease help them cope? Sickle cell patients and their families may need help in handling the economic and psychological stresses of coping with this serious chronic disease.

Sickle cell centers and clinics can provide information and counseling on handling these problems. Parents should try to learn as much about the disease as possible so that they can recognize early signs of complications and seek early treatment. Click here for a list of SCD providers in the Maryland area.

If you have sickle cell disease, it’s important to:

• Make sure you see a hematologist who is an expert in sickle cell disease
• Adopt or maintain a healthy lifestyle
• Take steps to prevent and control complications
• Learn safe ways to cope with pain