Above shows you the difference between sickle cells and normal cells.
Characteristics of Sickle Cell Disease
Common symptoms of this disease include attacks of abdominal pain, bone pain, breathlessness, delayed growth, fatigue, fever, and rapid heart rate. Other symptoms of this disease include chest pain, excessive thirst, poor eyesight/blindness, strokes, and skin ulcers. These symptoms don’t usually occur until after the age of 4 months. The life expectancy of someone with this disorder is reduced by about 30 years. About all people with this disease have painful episodes that can last anywhere from hours to days. Some people may have only one episode every few years. Others may have multiple episodes per year. They may be severe enough to require a hospital visit. The most commonly affected people include those from Africa, India, the Caribbean, the Middle East, and the Mediterranean. There is a high prevalence of the defective gene in these regions. Most states in the United States routinely schedule newborns with a simple blood test for sickle cell disease. If it isn’t detected at birth, a blood sample can be used to tell whether the person is a carrier of the faulty gene or if they have the disorder. Young children and babies must take a daily dose of penicillin to prevent deadly infections. Older people take folic acid, which helps you to build new red blood cells. Doctors also advise these people to get lots of rest, drink a large amount of water, and avoid excessive physical activity. People who have a severe case of this disease can be treated with a bone marrow transplant.
What is the Genetic Cause?
The following picture shows how chromosome 11 is affected:
As you can see, the normal amino acid (Glutamic acid) is changed to amino acid Valine in the chromosome.Therefore the hemoglobin protein is changed causing cells to become like a sickle shape. It is only inherited in a person if both parents pass down a defective copy of the gene. The picture below better describes this.
Karyotype
Above is a karyotype of someone with Sickle Cell disease.
Notice how in the Sickle Cell karyotype, chromosome 11 is deformed.
Below is a normal human karyotype.
How is the Human Body effected?
Sickle Cell Disease is a disorder that affects the red blood cells. These use the protein hemoglobin to move oxygen from your lungs to the rest of your body. Normal red blood cells are round and flexible so that they can easily move through narrow blood vessels. Hemoglobin molecules have two parts, an alpha and beta. Sickle Cell disease has a mutation on chromosome 11 that codes for the beta subunit. Therefore hemoglobin does not form properly causing the red blood cells to have a concave shape. These cells get stuck in the blood vessels and are unable to transport oxygen easily and effectively. This causes pain and damage to the organs.
References
The references I used to find my information include:
- http://learn.genetics.utah.edu/content/disorders/whataregd/sicklecell/index.html
- http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001554/
- http://www.google.com/imghp?hl=en&tab=wi
Wanna learn more?
The following website will allow you more information:
http://kidshealth.org/parent/medical/heart/sickle_cell_anemia.html
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