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What is Sickle Cell Disease?

Sickle cell disease (SCD) is a genetic condition present at birth. The disease is inherited from parents that carry an altered hemoglobin gene. Hemoglobin genes direct red blood cells (RBC’s) in bone marrow to produce hemoglobin. Hemoglobin is a protein that carries oxygen in red blood cells throughout the body. A person with SCD receives an altered copy of the hemoglobin gene from each parent.

Healthy red blood cells are round, and they move through small blood vessels carrying oxygen to all parts of the body. In sickle cell disease, the red blood cells look like a C-shaped farm tool called a “sickle” and often become hard and sticky. This gene defect causes the sickle cells to die early, which causes a constant shortage of red blood cells. These miss-shaped blood cells, when they travel through small blood vessels, can get stuck and clog the blood flow. This can cause recurrent episodes of pain, severe anemia or low hemoglobin levels, and other serious health problems if left untreated.

What causes sickle cell Trait?

Sickle cell trait occurs when a person carries a single copy of the sickle hemoglobin gene inherited from one parent along with a normal hemoglobin gene from the other parent. Most people who have sickle cell trait will never experience medical complications except in rare instances. People with sickle cell trait should be aware of this trait for family planning purposes because the altered hemoglobin gene can be passed onto their children.

What are the symptoms and complications?

People with sickle cell disease start to have symptoms during the first year of life, usually around 5 months of age. Symptoms and complications of sickle cell disease are different for each person and can range from mild to severe. They include: Hand-foot syndrome, pain episodes, anemia, infection, acute chest syndrome, splenic sequestration, vision loss, leg ulcers, and stroke.

Is there a cure?

The only cure for sickle cell disease is a bone marrow/stem cell transplant.

Methodology

The ASI Sickle Cell Test is intended to be used as an aid in the qualitative detection of hemoglobin S (Hb-S) in anticoagulated whole blood. The test does not distinguish between sickle cell disease (Hb-S/S) and sickle cell trait (Hb-S/A). This test is not recommended for use on newborns under 3 months of age. These materials are intended to be acquired, possessed, and used only by health professionals.