What is sickle cell disease?

Sickle cell disease (SCD) is one of the most common genetic disorders in the world. Each year, 1,000 babies in the U.S. and 500,000 children worldwide are born with the condition, according to the Sickle Cell Disease Association of America. National Sickle Cell Awareness Month is in September –– what should you know about this condition?

What is sickle cell disease (SCD)?

Sickle cell disease is a group of inherited red blood cell disorders. Red blood cells are round and carry oxygen –– they move throughout the body through blood vessels. SCD causes red blood cells to be hard, sticky and have the namesake “sickle” shape that looks like the C-shaped farm tool or a crescent. The sickle-shaped red blood cells die earlier than normal red blood cells, causing a person with SCD to have a constant shortage of red blood cells.

Because of their shape, sickle cells also can get stuck together in small blood vessels. This can cause a blockage in blood flow and oxygen to the body’s organs. These blockages can cause problems throughout the entire body, including repeated episodes of severe bone pain, lung, heart, gastrointestinal and urogenital conditions, organ damage, serious infections or even seizures and stroke.

Sickle cell disease facts

    1. Sickle cell disease (SCD) is an inherited condition.There are several types of SCD with varying levels of severity depending on which genes a child inherits, including:
      • HbSS: A child with this form of SCD inherits two “S” sickle cell genes, one from each parent. This type is usually referred to as sickle cell anemia and is considered the most severe form of the condition.
      • HbSC: A child with this form of SCD inherits an “S” gene from one parent and an abnormal hemoglobin “C” gene from the other parent. Hemoglobin is a protein that helps red blood cells carry oxygen. This kind of SCD is usually milder.
      • HbS beta thalassemia: A child with this form of SCD inherits an “S” gene from one parent and a beta thalassemia gene from the other. Beta thalassemia is another type of anemia, which has two types: “0” and “+”. HbS beta 0-thalassemia is the more severe type of SCD, and HbS beta +-thalassemia is often a milder form.
      • HbSD, HbSE and HbSO, the rare SCD types: A child with one of these types of SCD inherits one “S” gene and one abnormal hemoglobin type gene (“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.
    2. Sickle cell disease affects people of all races.It’s most common among people whose ancestors were from sub-Saharan Africa, the Caribbean, South America, Central America, Saudi Arabia, India and the Mediterranean.
    3. Sickle cell disease usually is diagnosed at birth.Every baby born in the U.S. is tested for sickle cell disease at birth through a blood test — part of routine newborn screening.
    4. Having sickle cell trait is not the same as having sickle cell disease.People with sickle cell trait inherit one sickle cell “S” gene and one normal “A” hemoglobin gene. Also called HbAS, people with sickle cell trait often do not have symptoms of sickle cell disease. They can pass the trait on to their children, and there may be other uncommon health problems associated with the trait.
    5. Sickle cell trait can protect a person from malaria. Areas of the world where sickle cell trait is common also are places where malaria is common. A Centers for Disease Control and Prevention (CDC) study showed sickle cell trait provides 60% protection against overall mortality with malaria. Most of this protection happens between 2 to 16 months old, before the onset of clinical immunity in areas with high rates of malaria.
    6. Stroke risk is higher in children with SCD.All people with SCD are at risk for stroke, but children with SCD have a much higher risk than the children without the condition. Physicians monitor children with SCD to determine if a child with SCD is at risk for stroke and build stroke prevention into the treatment plan. Kids at a higher risk for stroke are often treated with monthly blood transfusions, providing them with new, healthy red blood cells.
    7. Antibiotics are lifesavers for children with SCD. SCD puts children at an increased risk of serious bacterial infections. Children with SCD often will take penicillin twice a day for their first five years of life to help prevent infection. The discovery of this antibiotic helped increase life expectancy for children with SCD.

Norton Children’s Sickle Cell Disease Program

Norton Children’s Sickle Cell Disease Program is the leading program in Kentucky, and one of only a few locations in the country, to provide automated red cell exchange for children. The hematologists at Norton Children’s are board certified and fellowship trained to provide sophisticated, lifelong care and the latest treatments for children and adults with sickle cell disease.

Call for sickle cell anemia care.

(502) 588-3600

  1. Breathing issues are common for SCD patients. Breathing issues are very common for children with SCD, including conditions such as asthma, sleep disorders and recurrent pneumonia.
  2. Bone marrow transplant can be a cure –– for the right SCD patient.A type of bone marrow transplant called hematopoietic stem cell transplantation transfers healthy blood-forming cells from one person into the bone marrow of an SCD patient. Finding a suitable donor for this procedure is rare: Only 1 in 10 children with SCD can find a match. A haploidentical blood and marrow transplant can make it possible for partial matches such as parents, siblings, and possibly aunts, uncles, half-siblings and grandparents to be potential donors. These procedures usually are done in children with severe SCD, who are prone to strokes and chronic pain. In addition to other forms of blood and marrow transplant, haploidentical transplant is available for appropriate patients at Norton Children’s Cancer Institute, affiliated with the University of Louisville.
  3. You can help children with SCD by becoming a blood or bone marrow donor. SCD patients may need blood transfusions. A blood or marrow transplant is the only known cure for SCD. Donating blood or joining the bone marrow registry can help patients.

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