Sickle+Cell+Anemia

__**Shanice Brown **__ __**Sickle Cell Anemia **__


 * Root Cause: **

Sickle Cell anemia is a blood disorder that affects hemoglobin, the protein found in red blood cells that helps carry oxygen throughout the body. Sickle cell anemia is an autosomal recessive inherited disease which occurs when a person inherits two abnormal genes, a point mutation in the b globin gene. Children are given one trait from each parent which gives them the full trait and makes them susceptible to the full blown disease. In turn it that causes their red blood cells to change to an abnormal shape. Instead of the red blood cells being flexible and disc-shaped, the sickle cells are more stiff and curved in the shape of the old farm tool known as a sickle. Sickle Cells can live up from 10 to 12 days oppose to normal cells that can live for 120 days. **Image of a Healthy Blood Cell and a Sickle Cell**



**Image of the Inheritance of Sickle Cell Anemia**

 * Affected cell types/tissues/organs/systems: **

Sickle cell anemia means that some of the red blood cells of the affected person are not the right shape, instead of being bowl shaped, they are half moon shaped. This means that they cant carry oxygen around the body as well as a person without the condition. As the sickle cells are not only the wrong shape, but are also quite rigid, they can block blood capillaries, so that tissues in the body become ischemic, or starved of oxygen. The blockages can very loads in severity and frequency, and can end up causing a stroke or heart attack if there is a blockage of a blood vessel to the heart or brain. Another organ that is affected greatly by this disease is the spleen. It has really narrow blood vessles leading to it, which makes is easily susceptible to oxygen depletion. This is why many of those affected with sickle cell do not have a fully functioning spleen by the end of childhood, which is why they are often at a higher risk of infections.


 * Historical background: **

Dr. James Herrick is generally credited with “discovering” the sickle-cell condition in 1910. He examined the blood of a Jamaican patient and noted the tendency for the red blood cells to assume the characteristic condition of sickling. In 1917, V. Emmel discovered the in-vitro tendency of blood to sickle by using glass cover slips (and sufficient time – approximately 24 to 48 hours).

Sickle cell anemia received its name from Vernon Mason in 1922, but some elements of the disease had been recognized earlier. A paper in the “Southern Journal of Medical Pharmacology” in 1846 described the absence of a spleen in the autopsy of a runaway slave. The African medical literature reported this condition around the 1870s, back when it was known as “obbanjes (“children who come and go”) because of its very high infant mortality rate. Linnus Pauling and colleagues were the first to demonstrate that sickle cell disease occurs as a result of an abnormality in the hemoglobin molecule. This was the first time a genetic disease was linked to a mutation of a specific protein.

The first formal model to account for the potential inheritance of sickle-cell disease was proposed in 1923 by W.H. Taliaferro and J.G. Huck. This was actually a follow-up analysis to a prior examination done that year by Huck in which he simply did a series of pedigrees to identify if sickle-cell disease was heritable. Their subsequent work examined a particular pedigree of an African American family in which the ancestral parents had phenotypes of “normal” (female) and “sickle cell” (male). Their determination of sickling vs. non-sickling was made by in-vitro analysis of the blood using the test developed by Emmel.

There have been a number of famous people who have fallen victim to this disease: Jazz Musician Miles Davis, singer Paul Williams, New York Giants Tiki Barber, and rapper Prodigy.


 * Common Symptoms: **


 * Low number of red blood cells (anemia)
 * Repeated infections
 * Painful episodes can occur when sickled red blood cells, which are stiff and inflexible, get stuck in small blood vessels.
 * <span style="font-family: 'Times New Roman',Times,serif; font-size: 140%;">Shortness of breath
 * <span style="font-family: 'Times New Roman',Times,serif; font-size: 140%;">Fatigue
 * <span style="font-family: 'Times New Roman',Times,serif; font-size: 140%;">Delayed growth and development in children
 * <span style="font-family: 'Times New Roman',Times,serif; font-size: 140%;">Yellowing of the eyes and skin (Jaundice)
 * <span style="font-family: 'Times New Roman',Times,serif; font-size: 140%;">Episodes deprive tissues and organs of oxygen-rich blood and can lead to organ damage, especially in the lungs, kidneys, spleen, and brain.


 * <span style="font-family: 'Times New Roman',Times,serif; font-size: 140%;"> Standard Treatments: **

<span style="font-family: 'Times New Roman',Times,serif; font-size: 140%;">There is no true cure for sickle cell anemia, yet patients suffering form the disease use medications such as hydroxyurea, antibiotics and blood transfusions (for some) can relieve symptoms of this disease. Patients are also treated in the hospital when their episodes occur. The basic objectives for managing a sickle cell crisis include managing the pain and rehydration by administration of fluids. Oxygen is typically given for acute chest syndrome. Pain medications can help reduce the severe pain of sickle cell crises.


 * <span style="font-family: 'Times New Roman',Times,serif; font-size: 140%;">Current research: **

<span style="font-family: 'Times New Roman',Times,serif; font-size: 140%;">There are currently a multitude of research projects centering on sickle cell anemia, in hopes of better understanding and hopefully finding a cure. Rosenthal and colleagues (2012) are currently researching the effects that sickle cells have at preventing malaria, from those affected. It has been found to greatly hinder the ability of malaria to infect those already infected with sickle cell anemia ( Kato et al. 2011). More research needs to be conducted to pinpoint exactly how this occurs. Another current focus is on the effects sickle cell anemia has on the heart because the extent of which sickle cell disease impact myocardial function is not very clear ( Ersi et al 2012).


 * <span style="font-family: 'Times New Roman',Times,serif; font-size: 140%;">References: **

<span style="font-family: 'Times New Roman',Times,serif; font-size: 140%;">Bloom, M. (1995). Understanding sickle cell disease. Jackson: University Press of Mississippi.

<span style="font-family: 'Times New Roman',Times,serif; font-size: 140%;">Jones, P. (2008). Sickle cell disease. New York, NY: Chelsea House Publishers.

<span style="font-family: 'Times New Roman',Times,serif; font-size: 140%;">Rosenthal PJLessons from sickle cell disease in the treatment and control of malaria. N Engl J Med 2012;364:2549–51.

====<span style="background-color: #ffffff; font-family: 'Times New Roman',Courier,Helvetica,Arial,sans-serif; font-size: 12px;">Sickle Cell Disease (2014). In //<span style="background-color: #ffffff; font-family: 'Times New Roman',Courier,Helvetica,Arial,sans-serif; font-size: 12px;">Learn Genetics Genetic Science Learning Center //<span style="background-color: #ffffff; font-family: 'Times New Roman',Courier,Helvetica,Arial,sans-serif; font-size: 12px;">. Retrieved from http://learn.genetics.utah.edu/content/disorders/singlegene/sicklecell/ ====

<span style="font-family: 'Times New Roman',Times,serif; font-size: 140%;">Ruby A. Khoury, Khaled M. Musallam, Salman Mroueh, Miguel R. Abboud. (2011) Pulmonary Complications of Sickle Cell Disease. Hemoglobin 35:5-6, 625-635

<span style="font-family: 'Times New Roman',Times,serif; font-size: 140%;">Gregory J. Kato. (2011) TRV: A physiological biomarker in sickle cell disease. Pediatric Blood & Cancern

<span style="font-family: 'Times New Roman',Times,serif; font-size: 140%;">Pablo Bartolucci, Frédéric Galactéros. (2012) Clinical management of adult sickle-cell disease :. Current Opinion in Hematology 19:3, 149

<span style="font-family: 'Times New Roman',Times,serif; font-size: 140%;">Ersi Voskaridou, Dimitrios Christoulas, Evangelos Terpos. (2012) Sickle-cell disease and the heart: review of the current literature. British Journal of Haematologyn/a-n/a

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<span style="font-family: 'Times New Roman',Times,serif; font-size: 18px;">Wilson's Disease Fact Sheet and Flow Chart

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Flow Chart <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">1. Name of disease: Wilson’s disease

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">2. Root cause of disease: The primary cause of Wilson’s disease is that two mutant alleles of ATP7B gene found on chromosome 13-(13q14.3). Wilson’s disease is an autosomal recessive genetic disease that prevents the body from removing extra copper.

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">3. Affected cell types/tissues/organs/systems:

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">The organs that are effected by Wilson’s disease are liver, heart, kidney, eyes, bones, and central nervous system.

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">4. Historical background: (Include discoverer(s), famous victims, and

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">any historical events linked to the disease).

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Samuel Alexander Kinnier Wilson discovered Wilson’s disease and described the disease as “Progressive lenticular degeneration” discovered the gene in 1912. In 1948, Prof John N. Cumings made the link with copper accumulation in both the liver and the brain (Wilson’s Disease, 2012).

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">5. Common symptoms:


 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Abnormal posture of arms and legs
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Psychiatric Disorders (such as Depression, Personality Changes)
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Dementia
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Delirium
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Difficulty moving arms and legs, stiffness
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Difficulty walking (ataxia)
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Enlargement of the abdomen (abdominal distention)
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Phobias, distress (neuroses)
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Slow movements
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Slow or decreased movement and expressions of the face
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Speech impairment
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Tremors of the arms or hands
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Uncontrollable movement
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Unpredictable and jerky movement
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Weakness
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Yellow skin (jaundice) or yellow color of the white of the eye (icterus)

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">6. Standard treatments:

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">One of the treatments for Wilson’s Disease are low copper diets which includes low intake of chocolate, shellfish, dried fruit, mushrooms, nuts, and nuts. Another form of treatment for Wilson’s Disease are chelation which includes certain medications can bind to copper and help remove it through the kidneys or stomach (Wilson’s Disease, 2012). Some of those medications consist of Penicillamine (Cuprimine, Depen) which binds to copper and leads to increased release of copper in the urine. Some other medications are Trientine (Syprine) binds the copper and increases its release through the urine and Zinc acetate (Galzin) blocks copper from being absorbed in the intestinal tract (Wilson’s Disease, 2012).

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">7. Current research: (Please include reference citations here).

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">In a research conducted by Mattova et al, chelation polymeric beads were studied as a potential therapeutic for Wilson’s disease. The organ activity of the chelation polymeric beads were measured in rats. The results concluded that when the rat’s diet consisted of the chelation polymeric beads the copper contents in their kidney, brains, and liver reduced significantly (Mattova et al, 2014).

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">8. References:

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Disease and Conditions Wilson's Disease (2014, August 28). In Mayo Clinic.

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">from http://www.mayoclinic.org/diseases-conditions/wilsons-disease/basics/tests-diagnosis/con-2004

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Mattová, J., Poučková, P., Kučka, J., Škodová, M., & Vetrík, M. (2014, October). Chelating

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">polymeric beads as potential therapeutics for Wilson’s disease. European Journal of Pharmaceutical Sciences, 62, 1-7.

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">What is Wilson's Disease? (2011). In EuroWilson. http://www.eurowilson.org/en/living/guide/what/index.phtml

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Wilson's Disease (2012). In Wikispaces Classroom. from https://neurowiki2012.wikispaces.com/Wilson%E2%80%99s+Disease