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Diagnosis of Sickle Cell Disease

Sickle cell disease is a genetic disorder where the hemoglobin in your red blood cells abnormally changes the shape of the cell. Red blood cells are normally round and move freely through the blood vessels. When you have sickle cell disease, they are shaped like a sickle or a half-moon with pointy ends. They often get stuck in the blood vessels and cause infection, pain and damage to internal organs. There is no cure for sickle cell disease.

  1. Impaired Blood Flow

    • Your red blood cells carry oxygen throughout your body to the internal organs. When the red blood cells get stuck, the oxygen-carrying blood may not reach parts of the body and the tissue may get damaged. Impaired blood flow to the brain, for example, may lead to stroke.

    Anemia

    • With sickle cell disease, you may have a low number of red blood cells because the life span of the abnormal blood cell is much shorter than that of a normal red blood cell. A person with sickle cell disease is often anemic and may need blood transfusions.

    Other Symptoms

    • Infections, pain, anemia, damage to internal organs, acute chest pain, headaches, seizures, difficult breathing, swelling of the hands and feet, weakness, fatigue, enlarged spleen and stroke are all complications of sickle cell disease.

    Early Diagnosis With Infant Blood Test

    • Sickle cell disease can be diagnosed soon after birth with a blood test that is required in almost every state in the United States. Early diagnosis is important to protect the infant from infections and damage to organs.

    Who Can Inherit the Disease?

    • According to the U.S. Genetic Home Reference Guide, "Sickle cell disease is the most common inherited blood disorder in the United States, affecting 70,000 to 80,000 Americans. The disease is estimated to occur in 1 in 500 African Americans and 1 in 1,000 to 1,400 Hispanic Americans." The disease is also genetically inherited in people of Arabian, Greek, Maltese, Italian, Sardinian, Turkish and Indian ancestry.

    Genetics

    • Sickle cell disease is genetically passed on in a recessive pattern, meaning the parents can be carriers of the abnormal gene but not have the disease themselves. For example, according to Sickle Cell Association of America, "If one parent has Sickle Cell Anemia and the other is Normal, all of the children will have sickle cell trait. If one parent has Sickle Cell Anemia and the other has Sickle Cell Trait, there is a 50% chance (or 1 out of 2) of having a baby with either sickle cell disease or sickle cell trait with each pregnancy. When both parents have Sickle Cell Trait, they have a 25% chance (1 of 4) of having a baby with sickle cell disease with each pregnancy."

      Prospective parents can have their blood tested to see if they are carriers of the trait before they have children.

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