Sickle cell disease is a genetic condition that causes a lifelong anemia (low blood count). This happens because of a change in the makeup of the hemoglobin (a protein in the red blood cells) which carries oxygen to the body.
Normal red blood cells are shaped like a doughnut which allows them to squeeze through small blood vessels. In sickle cell disease, red blood cells are sickle shaped, unbending and block small blood vessels. They also break up easily and causes anemia. Major complications are painful crises, serious infection, stroke and damage to body organs
Sickle cell disease is an inherited condition that is most common among people whose ancestors come from Africa, the Middle East, the Mediterranean basin, and India.
If both mother and father carry the trait for a sickle cell disorder, there is a:
- 25% chance with each pregnancy for that child to have sickle cell disease.
- 50% chance for the child to have a trait
- 25% chance that the child will not have disease or trait.
Sickle cell disease affects millions of people worldwide. It affects over 70,000 people in the U.S.
- Is most common among people of African descent. 1 in every 12 African Americans has the trait. 1 in every 400 has sickle cell disease.
- It also affects people from Spanish speaking regions (South and Central America, Cuba). 1 in every 100 Hispanics has the trait. 1 in every 1000 Hispanics has sickle cell disease.
- It also affects people from another regions; India, Saudi Arabia and the Mediterranean (Italy, Greece, Turkey).
There are several types of sickle cell disease. The most common are:
- Sickle Cell Anemia (SS)
- Sickle C Disease (SC)
- Sickle Beta-Plus Thalassemia (SB+)
- Sickle Beta-Zero Thalassemia (SBO)
People with Sicle Cell trait inherit a normal hemoglobin gene (Hb A) from one parent, and a Sickle hemoglobin gene (Hb S) from the other parent. This results in hemoglobin AS or Sickle Cell trait. A person with Sickle Cell trait may also be called a Sickle Cell carrier.
Sickle Cell trait is not a disease. It does not turn into Sicle Cell Disease/Anemia. It is not contagious. People with Sickle Cell trait are not sick. They can lead normal lives and have minimal medical problems due to Sickle Cell trait. For a few people, painful episodes may occur if they fly in unpressurized planes at high altitudes. Some people with Sickle Cell trait may occasionally have blood in their urine. If these problems occur, a physician should be notified.
Counseling and education regarding the Sickle Cell trait are important because the sickle gene can be passed to any carrier’s children.
Sickle hemoglobin or hemoglobin S is a hemoglobin type that is most common in the African American population. However, it does occur in other racial groups including the white population.
Your hemoglobin type is inherited through family genes. The color of your hair, the color of your eyes, your body build, and your hemoglobin type are examples of things about you that are determined by your genes. You receive one gene for hemoglobin type from your mother and one from your father.
Hemoglobin A or normal adult hemoglobin is the most common type. There are over 500 different types or variations of hemoglobin.
- Severe pain in bones, muscles, or the abdomen that can last for days or weeks (called painful crisis).
- Fatigue, paleness, and shortness of breath. All are symptoms of anemia, or a shortage of red blood cells.
- Pain that occurs unpredictably in any body organ or joint.
- Vision problems or blindness when the retina (back of the eye that receives visual images) fails to receive the nourishment it needs from circulating red blood cells.
- Yellowing of skin and eyes, caused by liver malfunction (jaundice).
- Delayed growth and puberty in children and a slight build in adults.
- Higher vulnerability to infections.
- Narrowed or blocked small blood vessels in the brain, which can cause damage to parts of the brain (stroke).
- Complications caused by infection or trapped sickle cells in the lung, called acute chest syndrome.
Treatment for sickle cell disease is not usually curative, but is used to relieve pain symptoms and help prevent infections, lung damage, and strokes.
Treatment may also be given for complications from the disease and may include antibiotics, pain medications, intravenous fluids, and blood transfusions, which help with pain management and reduces the risk of stroke and other complications.
Iron overload (having an excess of iron) is a common issue after repeated blood transfusions. Too much iron can be toxic to the body and lead to organ damage. Sickle cell disease patients often receive treatment for iron overload as well.
Bone marrow transplantation is as an effective cure for some patients. Gene therapy is also being studied.
Diagnosing this disease as early as possible is optimum.
- There is a cure. There is no cure. However Bone Marrow Transplant is promising for some patients if there is a donor match available.
- It is contagious. Sickle Cell Anemia is a genetic disease and can not be transferred from person to person…it is in your genetic makeup. Your DNA.
- Everyone feels the same amount of pain. The pain has the same severity and frequency for all. It varies from person to person.
- All patients will die during childhood from Sickle Cell complications. This is not scientifically true and varies from patient to patient. Consistent treatment and a healthy diet can produce favorable out-comes.
No. Sickle cell disease is not contagious. It is an inherited disease.
In sickle cell disease, hemoglobin, a component of red blood cells that carries oxygen is altered. This causes the red blood cells to stiffen and twist into jagged “sickle” shapes. These cells block small blood vessels leading to:
- Painful crises (pain in arms, legs, chest or abdomen)
- Lung tissue damage (acute chest syndrome)
- Serious infections
- Damage to many organs including the spleen, kidneys and liver
Children with sickle cell disease are more likely to get severe bacterial infections and sudden enlargement of the spleen.