Sickle+Cell+Anemia

Kendrell McDuffie 1st Block Honors Mrs. Beatty

Hello, my name is Kendrell McDuffie and I'm doing a Genetic Disorder Project for my biology teacher Ms. Beatty. My Genetic Disorder is Sickle Cell Anemia. Please read below to find out detailed information concerning Sickle Cell Anemia.

​ Introduction:  1) Sickle cell anemia is a genetic disorder than turns normal circular disc-shaped blood cells into c-shaped crescent resembling blood cells. There are many other names for sickle cell, these include: Hemoglobin SS, Hemoglobin S, HBS disease, Sickle Cell Disorder due to Hemoglobin S, and Sickle Cell Disease. Most commonly it is referred to sickle cell anemia, due to the fact that it is a type of anemia. Sickle cell is an inherited disorder that lasts from conception till death. Above shows a karyotype of a person with Sickle Cell Anemia. As you can see there is really no difference between someone with Sickle Cell Anemia and a regular person. The reason to this is that Sickle Cell Anemia is due to a defective Hemoglobin S gene which is inside of the chromosome.

​ Mode of inheritance: 2) Sickle Cell, like all genetic disorders is inherited from both parents in a copy of the Sickle Cell hemoglobin gene, one from a parent. Sickle cell is an autosomal recessive trait, which means, that in order to develop the trait, both genes in the autosomal homologous chromosome pair must be defective. Inheriting only one copoy of tsickle cell gene will only give you Sickle Cell Trait. While Sickle Cell Trait does not usually affect your life with signs or symptons, you can pass the gene to your child. If you have a Sickle Cell trait and you spouse does also, the child will have a 50% chance of obtaining Sickle Cell Trait, 25% chance of inheriting Sickle Cell Anemia, and a 25% chance of normality within the genes.  Clinical description: 3) Sickle Cell Anemia is a disease that affects the Hemoglobin, an iron-rich protein that gives blood color and oxygen carrying ability, making the Hemoglobin abnormal Hemoglobin S. This dsorder makes the blood count in your body decrease which is why it is referred to as a type of anemia. Normal disc-shaped blood cells last usuallly 120 days, but in sickle shaped blood cells last between 10-20 days, which forces the body to produce more blood in which it fails to complete this task quickly enough. The structure of a sickle cell is hard, sticky, and c-shaped which makes the patient prone to blockages and clots. The clotting and blocking due to Sickle Cell Anemia deprive organs and tissue from oxygen carried by the blood. This process causes a great deal of pain and long term damage of tissues and vital organs. When a patient has a severe pain attack due to a blockage, or organ malfuntion it is known as Sickle Cell Crisis. Sickle Cell Anemia is found primarily in African- Americans whose ancestores came from Africa or other sub-tropical regions in the world. The disease is known to affect 1 in 500 African Americans and about 72,000 people in the United States. The disorder is still worldwide and affects millions today. Even though the disease is very serious some patients only have mild symptoms, while other have symptoms severe enough for long-term hospitalization. Most common signs of anemia are: fatigue, shortness of breath, dizziness, headache, coldness in the hands and feet, pale skin, chest pain, and yellowing of the eyes. Sudden pain, called Sickle Cell Crisis, is common throughout the body and affect bones, lungs, and joints. Sickle cell Anemia affects the body internally more than externally. These serious complications include: hand-foot syndrome, splenic crisis, infections, stroke, ulcers in the legs, and multiple organ failures. The complications are usually symptoms of not haveing enough blood, clotting of the arteries and vessels, and anemia.  Treatment:  4) Treatment of Sickle Cell is based on relieving symptoms, controlling complications, and relieve pain. Since there is no cure for Sickle Cell Anemia, patients usually die around age 40. From birth to death the patients live a painful and complicated life filled with medications, doctors, and hospitals. Hematologists and pediatric hematologists are doctors that usually treat sickle cell anemia, because the doctors specialize in blood diseases and disorders. Sickle Cell Anemia require lots of pain medication that help prevent painful crisis'. Hydroxyurea is a medication used to prevent painful crisis' and does not treat them when they occur. Blood transfusions are used to treat anemia and sickle cell complications. Englargement of the spleen is an example of a problem they would solve with blood transfusions. Research is being done on things such as, bone marrow transplant, gene therapy, and new medicine to provide more effeicient treatment of Sickle Cell Anemia. A few cases have shown bone marrow transplant to be successful, but descion on giving the transplant is done case by case, due to the fact there are many compications and side effects associated with the disorder. There is currently no gene therapy for Sickle Cell Anemia, but researchers are finding a way to include gene therapy in treatment of the disorder.

 Detection:  5) Early diagnosis of Sickle Cell Anemia is key to getting prompt and proper treatment. All states require that newborn infants be tested for the Sickle Cell Anemia gene, Hemoglobin S, and the sickle cell trait. Hemoglobin electrophoresis test, require a sample of the blood and the test is usually done with a screen of other tests for newborn infants. Sickle Cell Anemia can also be detected before the baby is born and within the first few months of pregnancy. This test is done is using a sample of the anmiotic fluid or tissue from the placenta. This test looks for the Sickle Cell Gene, rather than the hemoglobin that makes the gene. A Complete Blood Count test is also used to detect Sickle Cell Anemia, because anemia lowers blood count.

MLA Citations: "Sickle Cell Anemia." A.D.A.M. Google. 2010. 4-20-2010.

"Sickle Cell Anemia." Kids Health. Teens Health. 2010. 4-22-10.