What is sickle cell disease (sickle cell anemia)?

Sickle cell disease (SCD) is a group of inherited red blood cell disorders. It is caused by a change in the hemoglobin gene. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. In people withSCD, the hemoglobin is abnormal, which causes the red blood cells to become hard and sticky and look like a C-shaped farm tool called a “sickle.” The sickle cells die early, which causes a constant shortage of red blood cells.

The symptoms of SCD can vary from person to person and can range from mild to severe. Some common symptoms include:

• Painful episodes, called pain crises
• anemia
• fatigue
• Jaundice
• Shortness of breath
• infections
• stroke
• Eye problems
• Bone problems
• Organ damage

SCD is diagnosed with a blood test. The test looks for the presence of abnormal hemoglobin S.

There is no cure for SCD, but there are treatments that can help manage the symptoms and complications. Treatments may include:

• Pain medication
• Blood transfusions
• Medications to prevent infections
• Bone marrow transplant

With proper treatment, people with SCD can live long and productive lives.

Here are some additional details about the causes, symptoms, and treatment of SCD:

• Causes: SCD is caused by a genetic mutation. A person with SCD inherits two copies of the abnormal hemoglobin S gene, one from each parent. A person with one copy of the abnormal gene is said to have sickle cell trait. People with sickle cell trait do not have any symptoms of SCD, but they can pass the genes on to their children.
• Symptoms: The symptoms of SCD can vary from person to person and can range from mild to severe. Some common symptoms include:
  • Painful episodes, called pain crises: These episodes can occur anywhere in the body and can last for hours or days.
  • Anemia: This is a condition in which the body does not have enough healthy red blood cells to carry oxygen throughout the body.
  • Fatigue: This is a feeling of tiredness or weakness.
  • Jaundice: This is a yellowing of the skin and eyes.
  • Shortness of breath: This is difficulty breathing.
  • Infections: People with SCD are more likely to get infections, especially pneumonia and meningitis.
  • Stroke: This is a sudden loss of blood flow to the brain.
  • Eye problems: People with SCD are more likely to develop eye problems, such as glaucoma and retinal detachment.
  • Bone problems: People with SCD are more likely to develop bone problems, such as bone pain and fractures.
  • Organ damage: People with SCD are more likely to develop organ damage, such as kidney disease and liver disease.
• Diagnosis: SCD is diagnosed with a blood test. The test looks for the presence of abnormal hemoglobin S.
• Treatment: There is no cure for SCD, but there are treatments that can help manage the symptoms and complications. Treatments may include:
  • Pain medication: Pain medications can help relieve the pain of pain crises.
  • Blood transfusions: Blood transfusions can be used to replace the sickle cells with healthy red blood cells.
  • Medications to prevent infections: Antibiotics can be used to prevent infections.
  • Bone marrow transplant: A bone marrow transplant is a surgery to replace the bone marrow with healthy bone marrow from a donor.

With proper treatment, people with SCD can live long and productive lives. However, they may need to see their doctor more often than people without SCD and may need to take medication regularly.