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Sickle Cell Anemia

An In-depth Overview
by

B TG

on 5 March 2013

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Transcript of Sickle Cell Anemia

Fatigue,
Paleness Brian Tsang
Marco Lawandy Sickle Cell Anemia Blood Vessels Sickle Cell Anemia Stats Name of Gene Product: Official Gene Symbol: HBB 1) hemoglobin, beta
2) beta globin mRNA: 626 bp (intron-free) 146 amino acids
15,867 Da Protein Size: Mutation: Hemglobin S (Hb S)
Glutamic Acid
(6th position of AA) Glutamic Acid beta
subunit alpha
subunit Hemoglobin S abnormal hemoglobin clumps together after giving up oxygen less polar
favors hydrophobic interactions Glutamic acid replaced by Valine 1) hemoglobin becomes less soluble under decreasing oxygen concentrations 2) hemoglobin polymerizes into crystals History 1910 1927 1940 1948 1949 1956 1995 First formal description of sickle cell anemia SCA associated with low oxygen conditions SCA associated with hemoglobin Presence of fetal Hb in the RBC of sickle cell newborns is why newborns don't show symptoms Discovered the cause of SCA was linked to a change in protein structure Discovery that the change of a single amino acid is the cause of sickle cell anemia Hydroxyurea reduces the frequent, painful complications that characterize SCA James
Herrick First discovered treatment: Prevalence United
States Africa Medi-terranean ancestors of the
sub-Saharan South America Turkey Greece Italy Cuba Saudi Arabia India 100 000 1 in 500 1 in 36 000 1 in 12 Black/African American
births Hispanic American
births Blacks/Africans 69% 39% 24% 0 - 3 4 - 9 10 - 14 Other Symptoms How it's Transmitted Complications Treatments Current Research Diagnosis inherited condition
autsomal recessive
X-chromosome
Carriers will not express SCA must have 2 copies to get SCA Before After can be determined before or after birth Early diagnosis is Critical! 10 weeks into pregnancy The Test Amniotic fluid sample OR Placental tissue looks for the sickle cell gene electrophoresis is the most frequently used diagnostic test Hand-Foot
Syndrome Sudden
Pain Sight
Deterior
-ation Delayed
Growth as small blood vessels become blocked, pain and fever can result as well as breath shortness indicate anemia, a lack of RBC to the tissues A patient may experience pain wherever sickled blood cells block oxygen flow to tissues The retina can deteriorate when it does not get enough
nourishment from circulating red blood cells. Damage to the retina can be serious enough to cause blindness. The slow rate of growth is caused by a shortage of red blood cells Acute Chest Syndrome Pulmonary Hyper-
tension Stroke Gallstones Ulcers Multiple Organ Failure The National Institues of Health currently have many ongoing research projects across the world Nutrition
supplementation
studies in sickle
cell disease Infection incidence of SCA in young African children Controlled pain interaction for adolescents Transfusion therapy for young children Identifying peptides that inhibit Hb S
polymerization Ways to increase gamma-globin expression in SCA Blood Transfusions Hydroxyurea Oral Antibiotics increases the number of normal RBC in the bloodstream reduces frequency of painful crises and acute chest
syndrome oral penicillin twice a day helps prevent early death ] RBC develops a sickle shape Tends to block blood flow in blood vessels Blocked blood flow can cause pain, serious infections & organ damage Stiff and sticky B T
Marco L Mortality
Rate (Yrs old) Sources http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001554/
http://www.wepsicklecell.org/about/
http://www.nhlbi.nih.gov/health/health-topics/topics/sca/
http://kidshealth.org/teen/diseases_conditions/blood/sickle_cell_anemia.html
http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/sca.shtml
http://images.yourdictionary.com/sickle-cell NO CURE http://jeopardylabs.com/edit/enter-title81334
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