Sickle Cell Disease


Description:
Sickle Cell Disease, also called Sickle Cell Anemia, affects red blood cells. People who are diagnosed with this disease have a mutation on chromosome 11, which keeps hemoglobin molecules in the red blood cells from forming properly. Instead of having a round shape and being flexible like they’re supposed to, red blood cells are rigid, sticky, and have a concave shape. Their irregular shape causes the red blood cells to get stuck in blood vessels, to the point where they cannot transport oxygen effectively (red blood cells use hemoglobin to transport oxygen). The lack of oxygen causes pain and damage to the organs of an affected person.
Inheritance:Sickle Cell Disease is autosomal recessive, meaning a child only gets the disease if both parents are carriers. Carriers are people who inherit one good copy and one mutated copy of the gene. Although the parents/carriers are clinically normal, they can still pass on the gene to their children. If both mom and dad are carriers, 25% of their children will have the disease, 25% will not have the disease, and 50% of their children will be carriers.
Symptoms:
Sickle Cell Disease prevents oxygen from getting to the spleen, liver, kidneys, heart, lungs and other organs. Therefore, symptoms can consist of anything that results from organ failure. Symptoms of Sickle Cell Disease include:
  • Delayed growth
  • Strokes
  • Jaundice
  • Loss of immune function/ Infections
  • Anemia (low red blood cell count)
  • Crises (episodes of pain)
  • Hand-foot Syndrome
  • Acute Chest Syndrome
  • Vision problems
Daily Life:
Diagnosis: The most common way to diagnose Sickle Cell Disease is with a simple blood test that most states routinely screen newborn babies for. Blood samples can be used in a test called hemoglobin electrophoresis that determines whether he/she is a carrier of the faulty hemoglobin gene as well. This disease is also diagnosed by getting a CT Scan, MRI or a Peripheral Smear. Sickle Cell disease can be found by getting a white blood cell count too. Additionally, doctors can check blood oxygen levels, serum creatinine levels, serum hemoglobin levels and serum potassium levels in order to diagnose Sickle Cell Disease. No doubt, there are many ways to diagnose this disease.
Treatment:
Although bone marrow transplants are a cure for Sickle Cell Disease, they only work for children and it has many risks. Not to mention, it is very difficult to find a donor match when you don’t have a sibling. However, to make the disease better, different people do different things. Babies or young children take daily doses of penicillin to prevent potentially deadly infections. People can take folic acid; it helps build new red blood cells. Blood transfusions, which provide healthy blood cells, are a common treatment. Everyday treatments include plenty of rest, lots of water and avoiding a lot of physical activity.
Research:
Children’s Hospital of Philadelphia (CHOP) is conducting numerous research labs and clinical trials to investigate Sickle Cell Disease. Sickle Cell Ongoing Radiology Evaluation (SCORE), in particular, is trying to find new imaging methods that see “silent” strokes, such as advanced resonance imaging techniques and trans cranial color Doppler sonography. Also, Stroke With Transfusions Changing to Hydroxyurea (SWiTCH) is a phase III randomized, multi-center, clinical trial that compares standard therapy to prevent repeated stroke. It also attempts to manage iron overload.
Additional Facts:
Sickle Cell Disease most commonly affects African-Americans. One in every five-hundred African-Americans are born with this disease. Not to mention, 72,000 people in the United States have Sickle Cell Disease. Normal red blood cells live for 120 days. Sickle-shaped cells live only 10-20 days. Obviously, Sickle Cell Disease bases its name on the shape of the red blood cells. Nowadays, people with Sickle Cell Disease can live until they’re 50 years old.
Punnett Square:










Pedigree Chart:
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Resources:
  • Sickle Cell Disease
http://learn.genetics.utah.edu/content/disorders/whataregd/sicklecell/
  • Sickle Cell Research at CHOP
http://www.chop.edu/service/sickle-cell-center/sickle-cell-disease-research-at-the-childrens-hospital-of-philadelphia.html
  • Barrow, Karen. "Pain, Persistence, Family & Sickle Cell Disease." New York Times 01 Jan 2010: D5. Print.