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What medical treatment is currently available?

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What medical treatment is currently available?

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People typically don’t like past childhood with Sickle Cells Disease, but now because of new drug they are testing helps over 50% of all patients live past the age of 50 years. One of these drugs include hydroxyurea, which is a anti-tumor drug. This helps the patient have less chest pain and less blood transfusions. Bone Marrow donation is the only way on can be cured of Sickle Cell. Very few of the patients have perfect matches for bone marrow, and the procedure itself if very risky. Scientists are also currently experimenting with gene therapy which would correct the humans bone marrow cells.

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What famous (or well known) people have the disorder?

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What famous (or well known) people have the disorder?

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Here are some famous people with Sickle Cell Anemia;

1. Tionne “T-Boz” Watkins (Singer)

2. Prodigy (Rapper)

3. Tiki Barber (Pro football player)

4. Larenz Tate (actor)

5. Miles Davis (Musician)

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What is the rate of occurrence with the genetic disorder?

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What is the rate of occurrence with the genetic disorder?

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100,000 people in the US have Sickle Cell disease. This disease is most prevalent in African Americans, and about 1 in 12 African Americans have Sickle Cell Anemia. One in 100 hispanic people are carriers of the Sickle Cell trait. It is the most common blood disorder in the US. Most people who have the disease Ancestors are from Africa, Greece, Turkey, Italy, India, spanish speaking countries in South America and parts of the Caribbean.

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What type of mutation causes this genetic disorder; Chromosome

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What type of mutation causes this genetic disorder; Chromosome

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Sickle Cell Anemia is caused by a mutation in the Hemoglobin-Beta gene. This is found on chromosome 11. This happens when two of the sickle cell gene combine and then the child’s blood cells become deformed.

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Works Cited

“About Sickle Cell Disease.” Genome.gov, www.genome.gov/Genetic-Disorders/Sickle-Cell-Disease.

Jr., William C. Shiel. “21 Sickle Cell Anemia Symptoms, Genetics, Treatment, Life Expectancy.” MedicineNet, MedicineNet, 10 Jan. 2020, www.medicinenet.com/sickle_cell/article.htm.

“Sickle Cell Disease.” Celebrities With Your Disease, celebritieswithyourdisease.com/sickle-cell-disease/.

“Sickle Cell Disease - Genetics Home Reference - NIH.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/sickle-cell-disease#inheritance.

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What other organ systems are affected and how? 

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What other organ systems are affected and how? 

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The sickle cells are destroyed, which then causes Anemia which is how it gets its name. When one has Sickle Cell disease, the abnormal hemoglobin molecules combine together making a curve/rod like shape. Hemoglobin is what bring oxygen from the lungs around to other places in the body. These cells pile up and clump together, which then stops the blood flow to the organs and tissue. The sickle cells block blood flow to vital organs. This causes pain in the stroke, priapism, and can damage the spleen, liver, and kidneys and bacterial infections can overwhelm someone with sickle cell disease very easily, and they will most likely need to be hospitalized. The sickled blood cells are fragile and more prone to rupture.

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Here are some organizations that support Sickle Cell Anemia; 

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Here are some organizations that support Sickle Cell Anemia; 

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http://www.ascaa.org/
https://www.sicklecelldisease.org/
And the American Society of Hematology, (which website is blocked)

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Someone with sickle cell disease parent’s must both have the genetic defect. When both parents do have the genetic detected, their is 25% chance that their child will have it. If only one of the child’s parent has the gene/disease, their is a 50% chance the child will carry the gene.  This doesn’t really effect them, but they might pass it on to their child eventually.

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What phenotypes does the genetic disorder show?

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What phenotypes does the genetic disorder show?

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Their are no physical mutations that come with Sick Cell Disease, because all of the mutation happens within your blood. Red blood cells that have normal Hemoglobin are a round shape and moves through the blood vessels, and blood cells become deformed. They become a crest like shape (see images above)