Реферат: Scikle Cell Anemia Essay Research Paper SickleCell

Scikle Cell Anemia Essay, Research Paper

Sickle-Cell Anemia

Sickle-Cell Anemia is an inherited disease of red blood cells which can cause attacks of pain, damage to vital organs and can lead to early death. It was first noted in 1910 by physician, James B. Herrick, when identifying a patient from the West Indies with having an anemia featuring abnormal red blood cells that were sickle shaped. (Knight, 293). Since then, there have been many developments in the cause and treatment of the disease and the prognosis for patients living with SCA (Sickle-Cell Anemia) is bright.

Sickle-Cell Anemia or Sickle Cell Disease is caused by a genetic defect on the B-hemoglobin gene. Hemoglobin are proteins carried by red blood cells and are responsible for carrying oxygen in the lungs to the peripheral tissues in order to maintain life functions of cells. SCA occurs when there is a genetic mutation on the B-hemoglobin gene and anyone with this mutation is a carrier of the disease. A person may inherit the disease SCA only if both parents are carriers of the trait. Usually, the mutated hemoglobin causes no problem, but in some causes the protein s conduct may be altered, thus leading to further complications and perhaps even diseases such as SCA or thalassemia (an imbalance of alpha chain protein). (Harvard, Hemoglobin Overview )

From the 1910 documentation of Sickle-Cell Anemia, many researchers have studied the disease and made great accomplishments throughout the field. Protein electrophoresis was discovered around 1948, which help scientists identify carriers of the mutated hemoglobin. SCA was the first genetic disorder to have a known molecular base and the first disorder in which a defect protein was the known cause. (Harvard, A Brief History of Sickle Cell Disease ).

The most significant symptom of sickle-cell anemia is extreme episodes of pain that may require hospitalization for days. Life-threatening sickle-cell clots may occur randomly and can lead to stroke, paralysis and even death. Blood transfusions may be nedded every three to four weeks for an extended period to avoid clots in the brain. Other clots may damage vital organs such as the heart, kidney, lungs, liver or eyes. Sickle-cell patients experience similar joint pain to that of arthritis, pain in the intestines that may be confused with appendicitis and sickle-cell-induced clots in the skin that can cause ulcers. Such symptoms as these may actually deter attention from the actual diagnosis of SCA. (Gaston, 3)

Sickle-Cell Anemia is usually diagnosed when the patient is a baby or young child. Special problems among children with SCA are the occurrence of hand-and-foot syndrome a painful complication in which the limbs experience large swelling. A more dangerous complication is the risk for spleen enlargement. Because the spleen is so important in fighting off infection, most patients have great difficulty in fighting off infection, and as the patient matures this may lead to sever cases of pneumonia or chronic lung disease. As the patient grows they may also experience problems with their bones, especially in the spinal and hip region, because of the lack of blood flow in these areas. Jaundice is another important complication, which can cause the eyes to appear yellow because of the lack of blood or possibly even deprive the retina of blood so much that it can lead to blindness. (Gaston, 3;4).

There is no cure for Sickle-Cell Anemia, but there are many treatments to help the patient maintain a more normal lifestyle, and to also help in prolonging their life. At birth, many states require newborn screening for SCA. This may be done using several different methods, such as isoelectric focusing (IEF), liquid chromatography (HPLC) or cellulose acetate electrophoresis as the initial screening method. After the initial diagnosis, the patient is kept watch on to check for signs of fever or swelling which may suggest an infection. To fight infection babies are put on daily dosages of penicillin. As the patient grows older, they may experience problems with Acute Chest Syndrome, Transient Aplastic Crisis, Strokes, Transfusion Therapy, Opthalmological Disorders, Gall Bladder and Liver Disorders in Sickle Cell Disease, Splenic Sequestration Crisis and Bone Marrow Transplantation.

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