what really is tay-sachs disease? by aaron husband
TRANSCRIPT
What Really is Tay-Sachs Disease?
By Aaron Husband
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What Is It?
• A rare genetic disorder that affects nerve cells in the brain and spinal
• cord causing severe mental and developmental retardation.
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Genetics• Caused by a defect in a gene known as HEXA. Tay-
Sachs disease is an autosomal recessive genetic disorder. This means that each parent of an affected child is a carrier of one copy of the mutated gene, although they do not exhibit any signs or symptoms. If both parents are carriers of the mutated gene there is 25% chance in each pregnancy that the child will have Tay-Sachs disease.
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What Are Common Symptoms?
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• The most common time in life with symptoms are the most noticeable are during childhood. About 3 to 6 months parents will notice a cherry-red spot in the child’s retina. Characteristic symptoms of Tay-Sachs disease include muscle weakness, loss of muscle coordination and other problems with movement, speech problems, and mental illness.
How Many Are Reported A Year?
• Each year, about 16 cases of Tay-Sachs are diagnosed in the United States.
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Sickle Cell Anemia
By: Celia Tillman
What Is Sickle Cell Anemia?
Sickle cell anemia is a serious disease in which the body makes sickle shaped red blood cells. “Sickle shaped” means that the red blood cells are shaped like a "C. Normal red blood cells are disc-shaped and look like doughnuts without holes in the center. They move easily through your blood vessels. Red blood cells contain the protein hemoglobin. This iron rich protein gives blood its red color and carries oxygen from the lungs to the rest of the body.Sickle cells contain abnormal hemoglobin that causes the cells to have a sickle shape. Sickle-shaped cells don’t move easily through your blood vessels. They’re stiff and sticky and tend to form clumps and get stuck in the blood vessels. The clumps of sickle cells block blood flow in the blood vessels that lead to the limbs and organs. Blocked blood vessels can cause pain, serious infections.
Sickle Cell ConditionAnemia is a condition in which your blood has a lower than normal number of red blood cells. This condition also can occur if your red blood cells don’t have enough hemoglobin.Red blood cells are made in the spongy marrow inside the large bones of the body. Bone marrow is always making new red blood cells to replace old ones. Normal red blood cells last about 120 days in the bloodstream and then die.
How It Carries Through The BodyThey carry oxygen and remove carbon dioxide from your body.In sickle cell anemia, a lower than normal number of red blood cells occurs because sickle cells don’t last very long. Sickle cells usually die after only about 10 to 20 days. The bone marrow can’t make new red blood cells fast enough to replace the dying ones.
Patients with sickle cell anemia
The Normal Blood Cell And The Sickle Cell Blood Cell
Video
• http://www.youtube.com/watch?v=LUSk8Lu3TKQ