KAITLIN BANNON SICKLE CELL DISEASE. WHAT IS SICKLE CELL DISEASE? WHERE DID IT COME FROM?

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Presentation transcript:

KAITLIN BANNON SICKLE CELL DISEASE

WHAT IS SICKLE CELL DISEASE? WHERE DID IT COME FROM?

BACKGROUND Sickle Shaped Hemoglobin RBC Been around for 5000 years Africa First discovered in 1910 in Africa Dr. B Herrick  “new disease” Hahn and Gillespie 1927 Blood sickles  lack oxygen Sickle Cell located 1940’s by Linus Pauling hemoglobin

HOW IS IT INHERITED? WHAT ARE THE CAUSES?

INHERITANCE AND CAUSE Autosomal recessive Carriers, no sex bias 1:1 male to female Mutations in the HBB gene Normal Hemoglobin A Hemoglobin S, E Sickle shape Blocks blood flow

WHAT AREAS ARE MOST AFFECTED? ARE THERE SPECIFIC GROUPS IN THE WORLD MORE AFFECTED THAN OTHERS?

WHAT AREAS ARE AFFECTED MOST? Millions worldwide Most common in Africa, Greece, Turkey, South America Most common blood disorder in U.S 80,000 Americans 1 in 500 African Americans 1 in 1,000 Hispanic Americans

WHAT ARE THE SYMPTOMS? WHAT IS IT LIKE TO HAVE SICKLE CELL ANEMIA?

SYMPTOMS Infections Chronic anemia Damage to organs Chronic and constant pain Fetal hemoglobin Vasoclusive crisis Pulmonary hypertension Stroke Spontaneous abortions

HOW IS IT DIAGNOSED? HOW DO I KNOW IF I HAVE SICKLE CELL ANEMIA?

DIAGNOSIS Blood test Prenatal screening Newborn screening If first test is positive, second test confirms

IS THERE TREATMENT? CAN I GET RID OF SICKLE CELL ANEMIA?

TREATMENT No cure Blood transfusions Normal vaccines Oxygen therapy Antibiotics Hydroxyurea Stem cells, gene therapy? Lifelong struggle

IN CONCLUSION…

SUMMARY First discovered in 1910 Dr. B. Herrick Mutations in HBB gene Make red blood cells Autosomal Recessive Sickle Shaped RBCs Sticky, misshapen cells Diagnosed by blood tests, prenatal screening Symptoms Damage to organs, spontaneous abortions, chronic pain No cure Treatments are transfusions, vaccines, therapies, antibiotics, possibly stem cells Lifelong battle

"How Is Sickle Cell Anemia Diagnosed?" - NHLBI, NIH. National Heart, Lung and Blood Institute, 28 Sept Web. 24 Nov "Sickle Cell Anemia." Teens Health. Nemours, n.d. Web. 29 Nov "Sickle Cell Anemia." Sickle Cell Anemia. Manbir Online, n.d. Web. 25 Nov "SICKLE CELL DISEASE." Sickle Cell Disease. University of Utah, n.d. Web. 24 Nov "What Is Sickle Cell Anemia?" What Is Sickle Cell Anemia? National Institute of Health, 28 Sept Web. 25 Nov "What Is Sickle Cell Disease?" What Is Sickle Cell Disease? William E. Proudford Sickle Cell Fund, n.d. Web. 24 Nov