Sickle Cell Disease


Description:
Sickle cell disease is a disorder that affects the red blood cells. The blood cells use a protein called hemogoblin to transport oxygen from the lungs to the rest of your body. The hemogoblin molecule has two parts: an alpha and a beta. Patients with sickle cell disease have a mutation in a gene on chromosome 11 that codes for the beta sub unit of the hemogoblin molecules. As a result, hemogoblin molecules don’t form properly, causing red blood cells.

Inheritance:
Sickle cell disease is inherited in an autosomal recessive pattern. Autosomal recessive pattern means that two copies of an abnormal gene must be present in order for the disease or trait to develop. People who inherit one good copy of the gene and one mutated copy are carriers. They are clinically normal, but can still pass the defective gene to their children. A person gets Sickle cell disease when he or she inherits an S- type beta goblin gene from one parent and a C- type is slightly different from S-type, but also causes sickling. Each parent has two beta goblin genes. Both have one normal A- type chromosome, but the father also has a C chromosome while the mother has an S red chromosome. If one parent has sickle cell disease and other doesn’t, the child has sickle cell trait.



Symptoms:
Sickle cell disease prevents oxygen from reaching the spleen, liver, kidneys, lungs, heart, or other organs, causing a lot of damage. Without oxygen the cells that made up these organs will begin to die. For example, the spleen is often destroyed in these patients resulting in some loss of immune function. Patients also of often experience frequent infections. Other symptoms are severe pain, anemia, chest pain, strokes, and severe infections.


Daily Life:








Diagnosis:
Mostly newborns are checked for sickle cell disease with a blood test. If the disorder is not detected at birth, a blood sample can be used in a test called hemogoblin electrophoresis. This test will determine weather he or she is a carrier of the faulty hemogoblin gene. Do the test Hemogoblin S Beta- Thalassemia. Testing before birth can be done as early as ten weeks into the pregnancy. This testing looks for the sickle hemogoblin gene, rather than the abnormal hemogoblin that the gene makes.


Treatment:
Babies and young children with sickle cell disease must take a daily dose of penicillin to prevent potentially deadly infections. Patients also take folic acid, which helps build new red blood cells. Doctors advice people with sickle cell disease to get plenty of rest, drink lots of water, and avoid too much physical activity. Blood transfusions that provide a patient with healthy red blood cells are a common treatment. People with more severe cases of the disease can be treated with a bone marrow transplant. This procedure provides the patient with healthy red blood cells from a donor, really from a sibling.


Research:
There are foundations that are trying to find a cure, but right now no solutions. Foundations are trying to create medications which will make the red sickle cells back to normal or completely kill the sickle cell. So, right now there is no cure for sickle cell disease.


Additional Facts:
Unlike normal red blood cells, which can live for 120 days, sickle-shaped cells live only ten to twenty days. In the United States, the disease most commonly affects African-Americans. About 1 out every 500 African-American babies born in the United States has sickle cell disease. Sickle cell disease is most common among people from Africa, India, the Caribbean, the Middle East and the Mediterranean.

Punnett Square:
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Pedigree Chart:



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Pictures:


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Resources:

http://learn.genetics.utah.edu/content/disorders/whataregd/sicklecell/index.html
http://ghr.nlm.nih.gov/condition/sickle-cell-disease
http://www.marchofdimes.com/baby/birthdefects_sicklecell.html