GENETIC DISORDERSSamantha and Larissa

Mrs. Bock’s Science Class

SICKLE-CELL ANEMIA

• What is sickle-cell anemia (SCA)? It is a hereditary form of anemia in which a mutilated form of hemoglobin misshapes the red blood cells into a crescent shape at levels of low oxygen. Sickle-cell anemia is ordinarily found among people in the African desert.

• Sickle red blood cells are hard and sticky. When passing through the blood vessels, they clog the flow of blood and deteriorate, causing pain, damage to the vessels, and a low blood count.

PERSONAL STORY

• http://www.cdc.gov/features/SickleCellDisease/

• This is AJ Green. He was born in 1992. The doctors gave him a PKU shot, which is a shot given to newborns to give them a boost of an amino acid called phenylalanine. Back then, newborn screenings, which are tests given to every newborn for certain harmful or potentially fatal diseases or disorders that otherwise cannot be noticed at birth, were not widely known, along with sickle-cell disease. They were not things that were talked about often around 1992. AJ’s newborn screening showed that he had sickle-cell disease. AJ’s parents each had the trait, but not the disease. When his mother first found out via phone from the doctor, she could not bear it. She immediately went online to research what could happen to her son and what was in store for him.

PERSONAL STORY

• AJ had his first sickle-cell crisis when he was about eight months old.

• A crisis, in this case, is a painful episode that happens in people who have SCA. It occurs when sickle-shaped red blood cells (RBCs) block blood vessels. Blood and oxygen cannot get to your tissues, ending up in pain.

• AJ’s parents knew their son had SCA. When AJ’s first crisis came, his parents did not know to take him to the hospital. They thought he was just crying for the sake of crying and they gave him a bottle. His parents sensed something was wrong with AJ, so they took him to the hospital and found out that he was having a crisis in his foot.

PERSONAL STORY

• Even though he has sickle-cell anemia, AJ does not let that stop him. Today, at 19 years old, AJ is an accomplished singer and sickle-cell anemia advocate. He does not let his condition keep him from achieving his goals. AJ has not only performed for Presidents Clinton and Obama, but he has also performed alongside Elton John, the Canadian Tenors, Jason Mraz, and Rob Thomas, and he sang a duet with Jennifer Hudson. AJ is determined to “put sickle cell on the map” and continues to be an advocate and a sufferer of sickle-cell anemia. AJ proceeds to raise awareness of the disease so that someday it will receive as much attention as other widely known diseases, such as cancer.

PHYSICAL CHARACTERISTICS

• People with this disease have trouble with physical activity because their cells do not carry oxygen as well as healthy blood cells.

• Some of the physical characteristics of those who have sickle cell anemia are:• Slowing down of movement• Blood in urine• Urinary tract infections

INTERNAL CHARACTERISTIC

• Some of the internal characteristics of those who have sickle cell anemia are:• Having trouble with reoccurring blood clots• Pain crises

MENTAL EFFECTS

• The life span is shortened with those who have sickle-cell anemia. Many patients die of blood clots.

• The brain itself is not affected unless the blood fails to get oxygen to it.

HOW IS DNA EFFECTED?

• Sickle-cell anemia affects the hemoglobin, a red protein that transports oxygen in the blood of vertebrates.

• The gene for hemoglobin is mutated, producing a mutilated form of the gene.

HOW IS THE DISORDER INHERITED?

• Carriers of the disease have the trait, or one gene. Their children have a 25% chance of inheriting neither trait and having normal hemoglobin, a 50% chance of inheriting one trait and being a carrier, and a 25% chance of inheriting both traits and getting the disease.

HOW COMMON IS THE DISORDER?

• Sickle-cell disease is rare. There are less than 200,000 cases in the U.S. per year.

• This disease is usually found in African American people.

HOW DO DOCTORS DIAGNOSE THE DISORDER?

• Doctors will run a blood test and if they see abnormally sickle shaped red blood cells, they will diagnose the patient with sickle cell anemia.

WHAT IS BEING DONE TO HELP PEOPLE WITH THIS DISORDER?

• Some people get bone marrow transplants and it can cure the disease. The procedure has significant risks, so it is not very commonly used. The procedure is more commonly used in young patients who has severe sickle cell anemia, although this treatment is given on a case-by-case basis.

• Gene therapy is also a possibility. Some researchers are testing to see if a normal gene can be put in the bone marrow of a person with sickle cell disease. The therapy would cause the body to make normal red bloods cells.

• Some researchers are studying new medicines for sickle cell anemia. Some medicines interfere with the sickling of hemoglobin, others prevent the cells from sticking to blood vessel walls, and some raise the levels of hemoglobin present before birth-fetal hemoglobin.

CONCLUSION

• In conclusion, sickle cell anemia is when the hemoglobin, or red blood cells, in a person’s blood gets misshaped down to the shape of a sickle. AJ Green has the disease and he is not letting it stop him from doing what he wants. AJ has performed with a lot of stars, and even performed a duet with Jennifer Hudson.

• Did you know that 25 years ago, someone who had sickle cell anemia was only expected to live till 21, but nowadays, the average expected life span is at least 50 years old?

REFERENCES

• H. Gibbons, Gary M.D. “What Is Sickle Cell Disease?”. http://www.nhlbi.nih.gov/health/health-topics/topics/sca . 10/21/2015.

• The William E. Proudford Sickle Cell Fund. “What is sickle cell disease?”. http://wepsicklecell.org/about . 10/22/2015.

• National Center for Chronic Disease Prevention and Health Promotion. “Sickle Cell Disease: AJ Green’s Story”. http://www.cdc.gov/features/SickleCellDisease/ . 10/23/2015.

• Micromedex. “Sickle Cell Crisis”. http://www.cdc.gov/features/SickleCellDisease/ . 10/23/2015.