explain any two autosomal disorder
Answers
Answer:
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Explanation:
(1) Cystic fibrosis
Cystic fibrosis (CF) is a common, inherited, single-gene disorder, in Caucasians. People with CF produce mucus that is abnormally thick and sticky that can damage body organs. The mucus interrupts the function of vital organs, especially the lungs, and leads to chronic infections. CF also involves the pancreas and causes decreased absorption of essential nutrients and can cause reproductive system damage. With improved treatment and management of the disease, affected people may live well into adulthood. Ultimately, death most often occurs from respiratory failure. Other people with variants of CF may have only lung involvement, sinusitis, or infertility.
(2)Sickle cell anemia
Sickle cell anemia is another common, inherited, single-gene disorder found mostly in African-Americans. About 1 in 500 African-American babies is born with sickle cell anemia. About 1 in 12 African-American people carries the gene for this disease. Sickle cell disease involves the hemoglobin in the red blood cells, and their ability to carry oxygen. Normal red blood cells cells are smooth, round, and flexible, like the letter "O." They can easily move through the vessels in our bodies. Sickle cells are stiff and sticky. When they lose their oxygen, they form into the shape of a sickle, or the letter "C." These sickle cells tend to cluster together and can't easily move through the blood vessels. The cluster causes a blockage and stops the movement of healthy, normal, oxygen-carrying blood. This blockage is what causes the painful and damaging complications of sickle cell disease.
Sickle cells live only for about 15 days. Normal hemoglobin cells can live up to 120 days. Sickle cells risk being destroyed by the spleen because of their shape and stiffness. The spleen helps filter the blood of infections. Sickle cells get "stuck" in this filter and die. Due to the decreased number of hemoglobin cells circulating in the body, a person with sickle cell is chronically anemic. The spleen also suffers damage from the sickle cells, which block the healthy oxygen-carrying cells. After repeated blockages, the spleen is very small and does not work properly. Without a functioning spleen, these people are more at risk for infections. Infants and young children are at risk for life-threatening infections. Treatment includes prompt emergency care for fevers and infections, appropriate vaccinations, penicillin, and management of anemia.
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