Name of Disease/Disorder


Description:
Sickle Cell Disease affects the red blood cells in a person’s body. Hemoglobin in blood cells is a protein that transports oxygen from the lungs to the rest of the body. When the defective genes are passed down, they cause a mutation on chromosome 11 of a part of the hemoglobin called the beta. This mutation causes the red blood cells to become rigid and sickle shaped, when they are supposed to be round and flexible. Because of their shape, the cells get caught in blood vessels and they can’t transport oxygen properly, which can cause pain and damage to organs.

Inheritance:
Sickle cell disease is an autosomal recessive pattern, which means it will only occur if two copies of the defective gene are present. In order for a child to inherit sickle cell disease, both parents must be carriers. If both parents are carriers, they have a 25% chance of having a child with sickle cell disease. A person can also inherit the gene from a one parent and a different abnormal gene from the other parent and end up with a different form of sickle cell disease.


Symptoms:
· Organs such as the liver, spleen, kidneys, lungs and heart begin to fail from lack of oxygen
· Low red blood cell count, known as anemia, which is the most common symptom of all the forms of sickle cell disease.
· Patients have a series of pains called crises, which are caused by blood cells getting stuck in blood vessels
· Strokes
· Delayed growth
· Jaundice, which is yellowing to the skin, eyes, and mouth due to liver damage


Daily Life:




Diagnosis:
Sickle cell disease is usually diagnosed at birth with a blood test. If the child tests positive on the screening, a second test, called a hemoglobin electrophoresis, is used to confirm the diagnosis. Before birth, a doctor can take a sample of amniotic fluid from the placenta of the mother’s womb. Testing can be done up to 10 weeks into the pregnancy. The testing can be done on a smear of blood using a low oxygen preparation to identify sickle shaped cells under a microscope.




Treatment:
The only known effective treatment is a bone marrow transplant. For a child to receive a transplant, they would need a “matched” donor, but they are still a t risk because the transplant could be rejected. Until about age 5, penicillin is prescribed to children with sickle cell disease. Even with all the medicines, children should be properly immunized to reduce the chance of infection increase the length of their lives. Regular blood transfusions are preferred for children with serious complications. Hydroxyurea was approved in 1998 by the FDA for use in adults with sickle cell disease. Treatment is based on which features of the illness are present in each patient.


Research:
Many types of research are being done to find more possible treatments and cures for sickle cell disease. One of them is to find out if hydroxyurea is safe for use in children. At The Children’s Hospital of Philadelphia, there is a study dedicated to research for sickle cell disease in children. There is a study to investigate what causes OHD, which causes pulmonary complications in people with the disease. Another is to find new methods to identify “silent” stokes in children that can only be seen by special radiology technologies. They are also trying to find out if vitamins A and B6 can be used to promote growth and good nutrition in children with sickle cell disease. There is also research being done to develop strategies to increase the levels of fetal hemoglobin because people with higher levels tend to have a milder clinical course than those who don’t. Furthermore, they are examining transfusion therapy for young children at risk for sickle cell disease, researching the incidence and cause of infection in children with sickle cell disease in Africa.



Additional Facts:
In the U.S., 1 in 500 African-American babies are born with sickle cell disease. As a result, over 40 states require sickle cell screenings for newborns. Eight percent of the black population in the U.S. has sickle cell disease, which means it is present in about two million blacks. Forms of sickle cell disease have been traced back to people who have Mediterranean ancestors, East Indian or even Middle Eastern. Other names for sickle cell disease are Hemoglobin S Disease or SCD. While regular blood cells can live for up to one hundred and twenty days, sickle cells live for only ten to twenty days. On the bright side, about half of sickle cell patients can live longer than 50 years due to new drug treatment.




Punnett Square:


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Pedigree Chart:
Danielle_M_pedigree_chart_.PNG
Pictures:


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Resources:
**http://learn.genetics.utah.edu/content/disorders/whataregd/sicklecell/**

**http://kidshealth.org/parent/medical/heart/sickle_cell_anemia.html**

**http://ghr.nlm.nih.gov/condition/sickle-cell-disease**

**http://www.nlm.nih.gov/medlineplus/ency/article/002052.htm**

**http://www.genome.gov/10001219**

**http://www.chop.edu/service/sickle-cell-center/sickle-cell-disease-research-at-the-childrens-hospital-of-philadelphia.html**