What is Sickle Cell Disease?

Sickle Cell Disease is a group of multiple inherited red blood cell disorders. Those who have Sickle Cell Disease or Sickle Cell trait are at a higher risk of developing RMC then those without the disorder. In normal individuals, healthy red blood cells are round and move easily through the circulatory system to carry oxygen to all parts of the body. In people with SCD, the red blood cells become hard and sticky. The sickle cells die very early, which causes a constant shortage of red blood cells. Also, when they travel through extremely small blood vessels, they get stuck and cut off blood flow. This can cause pain and other serious problems such as infection and stroke.

Types of Sickle Cell Hemoglobinopathies

Sickle Cell Anemia

HbSS

A form of Sickle cell Disease where a person inherits one substitution of the beta-globin gene (the sickle cell gene) from each parent. If this happens then the child has Sickle Cell Anemia (SS). Populations that have a high rate of sickle cell anemia are those of African and Indian descent as the sickle cell red blood cells is a form of natural protection from malaria.

Sickle Beta Thalassemia (SB)

People who have Sickle Beta Thalassemia (SB) disease also contain substitutions in both beta-globin genes. The severity of the disease varies according to the amount of normal beta-globin produced compared to the amount of deformed beta-globin. When no beta globin is produced, the symptoms are almost identical to sickle cell anemia, with severe cases needing chronic blood transfusions. Populations that have a high frequency of Sickle Beta Thalassemia are those of Mediterranean and Caribbean descents.

Sickle Hemoglobin-C Disease (SC)

People with Sickle Hemoglobin-C Disease (SC) have a slightly different substitution in their beta globin genes that produces both hemoglobin C and hemoglobin S. Sickle Hemoglobin-C disease may cause similar symptoms as sickle cell anemia but less anemia due to a higher blood count level. Populations that have a high frequency of Sickle Hemoglobin-C disease are those of West African, Mediterranean and Middle Eastern descents.

People who have SCT inherit one sickle cell gene (S) from one parent and one normal gene (A) from the other parent. This is known as 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, rare health problems that may potentially be related to sickle cell trait, such as RMC.

Sickle Cell Trait (SCT)

HbAS

Complications and Treatments

Causes of Sickle Cell Disease

SCD is a genetic condition that is present at birth. It is inherited when a child receives two sickle cell genes (S).

Common Complications Of SCD:

  • Anemia: Sickle cells break apart easily and die, leaving you with very low levels of 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. This causes a shortage of red blood cells (anemia).Without enough red blood cells, your body can't get enough oxygen, causing fatigue.

  • Episodes of pain: Periodic episodes of pain, called sickle cell 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 varius bones. The level of pain varies in intensity and can last for a few hours to a few weeks. Some have only a few pain crises a year while others have a 10 to 15 pain crises a year. Some adolescents and adults with sickle cell anemia also have chronic pain, which can result from bone and joint damage, ulcers, and other causes.

  • Swelling of hands and feet: This swelling is caused by sickle-shaped red blood cells blocking blood flow to the hands and feet causing swelling of these areas.

  • Frequent infections: Sickle cells can damage your spleen, leaving you more vulnerable to infections. Doctors often give infants and children with sickle cell anemia vaccinations and antibiotics to prevent potentially life-threatening infections.

  • Vision problems: Tiny blood vessels that supply your eyes can become clogged up with sickle cells. This can damage the retina and lead to vision problems.

Medications (Source: CDC)

  • Hydroxyurea (Droxia, Hydrea, Siklos). Daily hydroxyurea reduces the frequency of painful crises and might reduce the need for blood transfusions and hospitalizations. It can also increase your risk of infections. Don't take the drug if you're pregnant.

  • L-glutamine oral powder (Endari). The FDA recently approved this drug for treatment of sickle cell anemia. It helps in reducing the frequency of pain crises.

  • Crizanlizumab (Adakveo). The FDA recently approved this drug for treatment of sickle cell anemia. Given through a vein, it helps reduce the frequency of pain crises. Side effects can include nausea, joint pain, back pain and fever.

  • Pain-relieving medications. Your doctor might prescribe narcotics to help relieve pain during sickle cell pain crises.

  • Voxelotor (Oxbryta). The Food and Drug Administration (FDA) recently approved this oral drug to improve anemia in people with sickle cell disease. Side effects can include headache, nausea, diarrhea, fatigue, rash and fever.

  • Blood transfusions. In a red blood cell transfusion, red blood cells are removed from a supply of donated blood, then given through a vein to a person with sickle cell anemia. This increases the number of normal red blood cells, which helps reduce symptoms and complications.

  • Risks include an immune response to the donor blood, which can make it hard to find future donors; infection; and excess iron buildup in your body. Because excess iron can damage your heart, liver and other organs, if you undergo regular transfusions, you might need treatment to reduce iron levels.

  • Stem cell transplant. Also known as bone marrow transplant, this procedure involves replacing bone marrow affected by sickle cell anemia with healthy bone marrow from a donor. The procedure usually uses a matched donor, such as a sibling, who doesn't have sickle cell anemia.

Surgical and Other Procedures