Down Syndrome
Down Syndrome is one of the most common genetic disorders. About 1 in 900 people are born with Down Syndrome. This is caused by extra material in their cells. About 95% of people with Down Syndrome have an entire extra chromosome 21. There are a lot of different different symptoms, the most common are mental retardation, eyes slanted upward, flattened facial profile, and decreased muscle tone. Most people with down syndrome did not inherit it but their cell divison was unevenly divided. But there is rare occasion that he/she did inherit from their mother or father. There is no medication to Down Syndrome. Sadly people with down syndrome tend to have other sicknesses like heart disease and hearing problems they take those medications. When a baby is born if the babys facial characteristics give doctors a suspicion to the thinking the child might have down syndrome they have a karyotype done. A karyotype is when they get a picture of that persons chromosomes.
Info: http://www.ygyh.org/ds/whatisit.htm
Info: http://www.ygyh.org/ds/whatisit.htm
Hemophilia
Hemophilia is a sex-linked disorder that affects men. About 1 in 4,000 men are born with hemophilia. Women can get it to just it is very rare. Hemophilia is caused by one of the blood clotting cells. People with this disorder bleed longer than other people because their blood doesn't clot fast. Someone with severe hemophilia and no treatment can bleed to death. People with hemophilia give themselves a shot with the clotting cells to stop extreme bleeding. Doctors give a series of test before diagnosing it hemophilia.
http://ygyh.org/hemo/whatisit.htm
http://ygyh.org/hemo/whatisit.htm
Cystic Fibrosis
Cystic Fibrosis occurs when a genetic mutation stops the production of a protein in cells of the lungs, pancreas, and other organs. The absence of the protein impairs the cell's ability to transport chloride ions in to and out of the cell. This sets up secondary conditions, including the thick mucus and bacterial infections in the lung. Cystic Fibrosis affects about 1 in 2,500 births in the U.S. and it affects males and females equally. Children should be tested for cystic fibrosis if they have persistent diarrhea smelly and greasy stool, frequent pneumonia, chronic coughing, salty skin, or poor growth. Cystic fibrosis is a recessive disorder. That is, a person gets cystic fibrosis only when he or she inherits two copies of the mutated gene, one from each parent. Nutritional problems from the lack of digestive enzymes are usually solved with enzyme supplements. Lung problems are treated, but not cured, with chest percussions or other methods of clearing mucus, drugs that help break up the mucus, and antibiotics. When the lungs begin to fail, a lung transplant can extend life. People with cystic fibrosis have saltier sweat than others, so, the simple and inexpensive "sweat test" that measures the amount of salt in a person's sweat, is used for diagnosis.
http://ygyh.org/cf/whatisit.htm
http://ygyh.org/cf/whatisit.htm
Sickle Cell Disease
Sickle cell disease is the most common single gene disorder in African-Americans, affecting one in every 375. Globally, a quarter of a million children are born with the disease each year, mainly in Africa, the Mediterranean, Arabia, and South Asia. Sickle Cell Diseases include three distinct types: sickle cell anemia, SC disease, and S disease. Then are caused by a mutation in a blood protein called beta globin. The mutation leads to changes in the shape and behavior of red blood cells. The sickled, stiff, and sticky red blood cells of sickle cell disease cause severe organ damage and intense pain. Pain associated with blocked vessels is the most obvious symptom, and can be severe enough to warrant hospitalization. The blocked blood vessels frequently lead to spleen, lung, and heart damage and stroke. Sickle cell also causes anemia, which leads to fatigue. Sickle cell anemia is an inherited disorder and is not contagious. A person gets sickle cells when he inherits an S-type beta globin gene from each parent. Each parent has 2 beta globin genes: one is the normal A-type and the other is the sickling S-type. A bone marrow transplant is the only available cure, but it is a high rick operation. The drug hydroxyurea helps to prevent or lessen sickle cell's complications ; blood transfusions and narcotics for pain also help to alleviate the symptoms. In most states, newborns are screens for hemoglobin disorders, including sickle cell. The screening test determines which hemoglobin types each child make. A child with sickle cells makes hemoglobin S instead of the usual hemoglobin A.
http://ygyh.org/sickle/whatisit.htm
http://ygyh.org/sickle/whatisit.htm