Sickle Cell Disease is a group of inherited red blood cell disorders that also known as Sickle Cell Anemia, Hemoglobin S or SS disease and Sickling disorder due to hemoglobin S.
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1. Why is it called ‘Sickle Cell’
It’s called “Sickle Cell” because of the shape that red blood cells take on when the disease is present. Healthy red blood cells are round, and they move through small blood vessels to carry oxygen to all parts of the body. In someone who has SCD, the red blood cells become hard and sticky and look like a C-shaped farm tool called a “sickle”.
Sickle cells also die early, which causes a constant shortage of red blood cells. Also, when they travel through small blood vessels, they get stuck and clog the blood flow. This can cause pain and other serious problems such infection, acute chest syndrome and stroke.
Let’s take a look at the types of SCD, their causes, diagnoses and how SCD is cured.
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2. Is there just one type of SCD?
There are actually six different types of SCD and some are more common than others.
Following are the most common types of SCD:
HbSS
People who have this form of SCD inherit two sickle cell genes (“S”), one from each parent. This is commonly called sickle cell anemia and is usually the most severe form of the disease.
HbSC
People who have this form of SCD inherit a sickle cell gene (“S”) from one parent and from the other parent a gene for an abnormal hemoglobin called “C”. Hemoglobin is a protein that allows red blood cells to carry oxygen to all parts of the body. This is usually a milder form of SCD.
HbS beta thalassemia
People who have this form of SCD inherit one sickle cell gene (“S”) from one parent and one gene for beta thalassemia, another type of anemia, from the other parent. There are two types of beta thalassemia: “0” and “+”. Those with HbS beta 0-thalassemia usually have a severe form of SCD. People with HbS beta +-thalassemia tend to have a milder form of SCD.
There also are a few rare types of SCD:
HbSD, HbSE, and HbSO
People who have these forms of SCD inherit one sickle cell gene (“S”) and one gene from an abnormal type of hemoglobin (“D”, “E”, or “O”). Hemoglobin is a protein that allows red blood cells to carry oxygen to all parts of the body. The severity of these rarer types of SCD varies.
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3. What causes SCD?
SCD is a genetic condition that is present at birth. It is inherited when a child receives two sickle cell genes—one from each parent.
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4. What is Sickle Cell Trait (SCT)?
HbAS
People who have SCT inherit one sickle cell gene (“S”) from one parent and one normal gene (“A”) from the other parent. This is called sickle cell trait (SCT). People with SCT usually do not have any of the signs of the disease and live a normal life, but they can pass the trait on to their children. Additionally, there are a few, uncommon health problems that may potentially be related to sickle cell trait.
Learn more from the CDC about sickle cell trait
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5. How is SCD diagnosed?
SCD is diagnosed with a simple blood test. It most often is found at birth during routine newborn screening tests at the hospital. In addition, SCD can be diagnosed before birth.
Because children with SCD are at an increased risk of infection and other health problems, early diagnosis and treatment are important.
You can call your local sickle cell organization to find out how to get tested.
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6. How early are SCD symptoms evident?
People with 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. According to the Mayo Clinic, they can include:
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Anemia. Sickle cells break apart easily and die, leaving you without enough 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 the oxygen it needs to feel energized, causing fatigue.
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Episodes of pain. Periodic episodes of pain, called 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 episodes. Others have a dozen or more crises a year. If a crisis is severe enough, you might need to be hospitalized.
Some adolescents and adults with sickle cell anemia also have chronic pain, which can result from bone and joint damage, ulcers and other causes.
- Painful swelling of hands and feet. The swelling is caused by sickle-shaped red blood cells blocking blood flow to the hands and feet.
- Frequent infections. Sickle cells can damage an organ that fights infection (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.
- Delayed growth. Red blood cells provide your body with the oxygen and nutrients you need 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 your eyes may become plugged with sickle cells. This can damage the retina — the portion of the eye that processes visual images, leading to vision problems.
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7. Who is most likely to get SCD?
Sickle cell trait is more common in certain ethnic groups, including:
- African Americans (8 to 10 percent of African Americans have sickle cell trait)
- Hispanics
- South Asians
- Caucasians from southern Europe
- People from Middle Eastern countries
According to the American Society of Hematology, it is estimated that:
SCD affects approximately 100,000 Americans.
SCD occurs among about 1 out of every 365 Black or African-American births.
SCD occurs among about 1 out of every 16,300 Hispanic-American births.
About 1 in 13 Black or African-American babies is born with sickle cell trait (SCT).
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8. How soon can testing for SCD be done?
According to the American Society of Hematology, all newborns in the United States are now tested for SCD and SCT.
SCD also can be identified before birth by testing a sample of amniotic fluid or tissue from the placenta. People who carry the sickle cell gene can seek genetic counseling before pregnancy to discuss options.
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9. How is SDC treated?
There is no single best treatment for all people with SCD. Treatment options are different for each person depending on the symptoms.
Learn more from the CDC about complications and treatments
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10. Is SCD a rare disease?
No. According to the Centers for Disease Control, the exact number of people living with SCD in the United States is unknown. Working with partners, the CDC supports projects to learn about the number of people living with SCD to better understand how the disease impacts their health.
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11. Is there a cure for SDC?
The only cure for SCD is bone marrow or stem cell transplant.
Bone marrow is a soft, fatty tissue inside the center of the bones where blood cells are made. A bone marrow or stem cell transplant is a procedure that takes healthy cells that form blood from one person—the donor—and puts them into someone whose bone marrow is not working properly.
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. Usually, the best donor is a brother or sister. Bone marrow or stem cell transplants are used only in cases of severe SCD for children who have minimal organ damage from the disease.
This article was produced and syndicated by MediaFeed.org.
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