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Sickle Cell Disease
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Quick Definition ► A genetic disorder of red blood cell (hemoglobin) production that gives red blood cells a sickle shape
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History of Sickle Cell The origin of the gene mutation that led to sickle-cell occurred in the Arabian peninsula. It spread to Asia and Africa. Malaria was the selective pressure. This mutation occurred up to 6,000 generations ago, approximately 150,000 years back.
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Who has it? Mostly descendants of: Tropical parts of Africa Southeast Asia
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The Stats
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How it Affects the Body ► Red Blood Cells Die Early 16 days rather than 120 ► Blood Flow Sickle shape can clog ► Body Parts/Organs Oxygen Debt (Ischemia) ► Immune System Functions Poorly
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Symptoms ► Vasoocclusive Crises ( Blood Vessel Blockage) Necrosis (dead tissue) ► Ulcers (open wounds) Pain ► Muscles, Skeleton, Chest, Abdomen Lung Tissue Damage Heart Ischemia (lack of blood) Renal (kidney) Failure Stroke Swelling ► Hematological Problems (Blood) Fall in hemoglobin level Organ damage ► Spleen - from absorption of sickle shaped RBC’s ► Kidneys ► Liver Bone marrow function suffers ► Anemia
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Symptoms (cont.)
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► Infectious Crises Immunosuppression (reduced immune response) from loss of splene function ► Life expectancy: 42 – 48 ► Pregnancy – miscarriages ► Clots Symptoms (cont.)
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Statistics and the facts ► 70,000 – 100,000 Americans suffer from the disease ► 1 in 500 African Americans have the disease 1 in 12 are Carriers ► 1 in 1200 Hispanic Americans ► Sickle cell disease still prevents Malaria
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Has It https://www.youtube.com/watch?v=EktxevGQ_MQ TLC Singer T-Boz Tionne T-Boz Watkins As well as – Rapper Prodigy, Pro Football Player Tiki Barber, Actor Larenz Tate, Trumpeter Miles Davis and many, many others!
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What about a future? ► Stem Cell research ► Gene therapy
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Sources ► SCDAA. “What is Sickle Cell Disease?” 2005. 15 April 2005. http://www.sicklecelldisease.org/about_scd/. ► Wikipedia. “Sickle Cell Disease.” 2001. 4 June 2004. http://en.wikipedia.org/wiki/Sickle-cell_disease ► KidsHealth. “Sickle Cell Disease.” 1995. June 2007. http://kidshealth.org/parent/medical/heart/sickle_cell_anemia.html. ► DHS/NIH. “What is Sickle Cell Anemia.” 1998. August 2008. http://www.nhlbi.nih.gov/health/dci/Diseases/Sca/SCA_WhatIs.html. ► Genetics Home Reference. “Sickle Cell Disease.” 1993. February 2007. http://ghr.nlm.nih.gov/condition=sicklecelldisease. ► Prof. Ishita Mukerji. “Sickle Cell Disease.” 2004. 5 March 2004. http://www.sicklecellinfo.net/index.htm. ► Bryan Bledsoe. Essentials of Paramedic Care 2 nd Ed. Pg 1398-1399. Copyright 2007. ► Marshall Lichtman. Williams Hematology 7 th Ed. Pg 678-690. Copyright 2006.
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