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Sickle cell anemia is an inherited form of anemia - a condition in which there aren't enough healthy red blood cells to carry adequate oxygen throughout your body. Normally, your red blood cells are flexible and round, moving easily through your blood vessels. In sickle cell anemia, the red blood cells become rigid, sticky and are shaped like sickles or crescent moons. These irregularly shaped cells can get stuck in small blood vessels, which can slow or block blood flow and oxygen to parts of the body.
Alternative Names of Sickle Cell are: Hemoglobin SS disease; Hemoglobin S disease; HbS disease; Sickle cell disorders; Sickling disorder due to hemoglobin S; Sickle cell disease
Complications of Sickle Cell
Sickle cell anemia can lead to a host of complications, including:
Causes of Sickle Cell
Sickle cell anemia is caused by a mutation in the gene that tells your body to make hemoglobin — the red, iron-rich compound that gives blood its red color. Hemoglobin is a component of every red blood cell. It allows red blood cells to carry oxygen from your lungs to all parts of your body, and to carry carbon dioxide waste from throughout your body to your lungs so that it can be exhaled. Under normal circumstances, your body makes healthy hemoglobin known as hemoglobin A. People with sickle cell anemia make hemoglobin S — the S stands for sickle. The sickle cell gene is passed from generation to generation in a pattern of inheritance called autosomal recessive inheritance. This means that both the mother and the father must pass on the defective form of the gene for a child to be affected. People with sickle cell trait have one normal hemoglobin gene and one defective form of the gene. So their bodies make both normal hemoglobin and sickle cell hemoglobin. Their blood may contain some sickle cells, but they generally don't experience symptoms. However, they are carriers of the disease, which means they can pass the defective gene on to their children. With each pregnancy, two people with sickle cell traits have:
Signs & Symptoms of Sickle Cell
The signs and symptoms of sickle cell anemia vary. Some people have mild symptoms. Others have very severe symptoms and often are hospitalized for treatment. Sickle cell anemia is present at birth, but many infants don't show any signs until after 4 months of age. The most common signs and symptoms are linked to anemia and pain. Other signs and symptoms are linked to the disease's complications.
Signs and Symptoms Related to Anemia
The most common symptom of anemia is fatigue (feeling tired or weak). Other signs and symptoms of anemia include:
Signs and Symptoms Related to Pain
Diagnosis of Sickle Cell
Treatments of Sickle Cell
Bone marrow transplant offers the only potential cure for sickle cell anemia. But, finding a donor is difficult and the procedure has serious risks associated with it, including death. As a result, treatment for sickle cell anemia is usually aimed at avoiding crises, relieving symptoms and preventing complications. If you have sickle cell anemia, you'll need to make regular visits to your doctor to check your red blood cell count and monitor your health. Treatments may include medications to reduce pain and prevent complications, blood transfusions and supplemental oxygen, as well as bone marrow transplant.
Medications used to treat sickle cell anemia include:
Prevention of Sickle Cell
If you carry the sickle cell trait, you may wish to see a genetic counselor before trying to conceive a child. A genetic counselor can help you understand your risk of having a child with sickle cell anemia. He or she can also explain possible treatments, preventive measures and reproductive options.
There is an in vitro fertilization procedure that improves the chances for parents who both carry the sickle cell gene to have a child with normal hemoglobin. This procedure is known as preimplantation genetic diagnosis. First, eggs are taken from the mother. Then, sperm is taken from the father. In a laboratory, the eggs are fertilized with the sperm. The fertilized eggs are then tested for the presence of the sickle cell gene. Fertilized eggs free of the sickle cell gene can be implanted into the mother for normal development. However, this procedure is expensive and not always successful.
When to seek Medical Advice
Although sickle cell anemia is usually diagnosed in infancy, if you or your child develops any of the following problems, see your doctor right away or seek emergency medical care.
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