Carson's Hereditary Diseases by Carson Matthew https://padlet.com/carsonmjust/2xgieffoxen7 en-us 2016-11-14 18:15:58 UTC 2016-11-14 19:12:17 UTC hello@padlet.com Sickle cell anemia carsonmjust https://padlet.com/carsonmjust/2xgieffoxen7/wish/137487163 Sickle cell anemia is a disease in which your body produces abnormally shaped red blood cells. The cells are shaped like a crescent or sickle. They don't last as long as normal, round red blood cells. This leads to anemia The sickle cells also get stuck in blood vessels, blocking blood flow. This can cause pain and organ damage. A genetic problem causes sickle cell anemia. People with the disease are born with two sickle cell genes, one from each parent. If you only have one sickle cell gene, it's called sickle cell trait. About 1 in 12 African Americans has sickle cell trait.


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]]> 2016-11-14 18:18:57 UTC https://padlet.com/carsonmjust/2xgieffoxen7/wish/137487163 Huntington's carsonmjust https://padlet.com/carsonmjust/2xgieffoxen7/wish/137493672 Huntington's disease (HD) is an inherited disease that causes certain nerve cells in the brain to waste away. People are born with the defective gene, but symptoms usually don't appear until middle age. Early symptoms of HD may include uncontrolled movements, clumsiness, and balance problems. Later, HD can take away the ability to walk, talk, and swallow. Some people stop recognizing family members. Others are aware of their environment and are able to express emotions. If one of your parents has Huntington's disease, you have a 50 percent chance of getting it. A blood test can tell you if have the HD gene and will develop the disease. Genetic counseling can help you weigh the risks and benefits of taking the test. There is no cure. Medicines can help manage some of the symptoms, but cannot slow down or stop the disease.

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]]> 2016-11-14 18:32:49 UTC https://padlet.com/carsonmjust/2xgieffoxen7/wish/137493672 PKU carsonmjust https://padlet.com/carsonmjust/2xgieffoxen7/wish/137500444 Phenylketonuria (PKU) is a type of amino acid metabolism disorder. It is inherited. If you have it, your body can't process part of a protein called phenylalanine. phenylalanine is in almost all foods. If your phenylalanine level gets too high, it can damage your brain and cause severe intellectual disability. All babies born in U.S. hospitals must now have a screening test for PKU. This makes it easier to diagnose and treat the problem early.

The best treatment for PKU is a diet of low-protein foods. There are special formulas for newborns. For older children and adults, the diet includes many fruits and vegetables. It also includes some low-protein breads, pastas and cereals. Nutritional formulas provide the vitamins and minerals you can't get from their food.

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]]> 2016-11-14 18:46:52 UTC https://padlet.com/carsonmjust/2xgieffoxen7/wish/137500444 Hemophilia carsonmjust https://padlet.com/carsonmjust/2xgieffoxen7/wish/137506926 Hemophilia is a rare disorder in which the blood does not clot normally. It is usually inherited. Hemophilia usually occurs in males. If you have hemophilia, you have little or no clotting factor. Clotting factor is a protein needed for normal blood clotting. Without it, you may bleed for a long time after an injury or accident. You also may bleed into your knees, ankles, and elbows. Bleeding in the joints causes pain and, if not treated, can lead to arthritis. Bleeding in the brain, a very serious complication of hemophilia, requires emergency treatment. The main symptoms of hemophilia are excessive bleeding and easy bruising. Blood tests can tell if you have it. The main treatment is injecting the missing clotting factor into the bloodstream. You may need it on a regular basis, or just when bleeding occurs.



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]]> 2016-11-14 18:58:23 UTC https://padlet.com/carsonmjust/2xgieffoxen7/wish/137506926 Tay Sacs carsonmjust https://padlet.com/carsonmjust/2xgieffoxen7/wish/137509674 Tay-Sachs disease is a rare, inherited disease. It is a type of lipid metabolism disorder. It causes too much of a fatty substance to build up in the brain. This buildup destroys nerve cells, causing mental and physical problems. Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then mental and physical abilities decline. The child becomes blind, deaf, and unable to swallow. Muscles begin to waste away and paralysis sets in. Even with the best of care, children with Tay-Sachs disease usually die by age 4. The cause is a gene mutation which is most common in Eastern European Ashkenazi Jews. To get the disease, both parents must have the gene. If they do, there is a 25% chance of the child having the disease. A blood test and prenatal tests can check for the gene or the disease. There is no cure.

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]]> 2016-11-14 19:03:47 UTC https://padlet.com/carsonmjust/2xgieffoxen7/wish/137509674