Sickle Cell AnemiaKatie Coltharp and Mariela Saenz

Names of Disorder

• HbS disease• Hemoglobin S disease• Hemoglobin SS disease• Sickling disorder due to hemoglobin S• Sickle cell disease (broad term)• Sickle cell disorders (broad group of conditions)

Type of Disorder

• Chromosomal disorder• Mutation in a gene on chromosome 11• Autosomal recessive• About 5% of the world’s population are

carriers, and approximately 1% are

actually affected.

Karyotype

PedigreeAa Aa

Aa AA AA AA aa AAAa

AA AA Aa AA AA Aa Aa AA AA

Disease Present Disease AbsentCarriers

Symptoms of the Disorder

• Most common symptom is fatigue.• Others include:

• Headaches• Dizziness• Paler skin than normal or jaundice• Shortness of breath• Pain throughout the body (bones, joints, lungs, etc.)• Ulcers on the lower legs (not usually in children)• Vision problems

Diagnostic Testing

• Very easily detected with simple blood test(s).• First blood test determines whether you have sickle hemoglobin

and/or tests the blood oxygen level.• Second test would be done to verify the diagnosis.

• The earlier one is diagnosed, the better.• U.S requires all newborns to be tested for sickle cell

anemia.

Prognosis

• Life expectancy in the 1980s for someone who had sickle cell anemia was mid-40s.

• Life expectancy is increasing greatly.• Longevity has been prolonged into late 50s and beyond.• Can’t be prevented because it is an inherited disease.

Treatment

Common• Blood transfusions • Pain medicines• Antibiotics to prevent bacterial infections (common in children with sickle cell

disease)

In Some Cases• Dialysis or kidney transplant for kidney disease• Gallbladder removal in people with gallstone disease• Hip replacement• Surgery for eye problems• Treatment for overuse or abuse of narcotic pain medicines• Wound care for leg ulcers• Medicine to reduce the number of pain episodes (including chest pain and difficulty

breathing)

Current Research

• Stem cellsTransplantation of blood-forming stem cells

• Brain function

Genetic Counseling

• Depending on the couple, the probability varies greatly.• In the United States, it is more prevalent in African

Americans (approximately 1 in 10 have the trait) and Hispanic Americans (approximately 1 in 100).

• It is estimated that 1 in 375 African Americans have a form of Sickle Cell Anemia.

Punnett Square

A a

A AA Aa

a Aa aa

A A

A AA AA

a Aa Aa

A A

A AA AA

A AA AA

A a

a Aa aa

a Aa aa

a a

a aa aa

a aa aa

A A

a Aa Aa

a Aa Aa

A Great Story

• http://www.youtube.com/watch?v=o18ow1yuL8o&feature=player_embedded

Credits

Websites• Genetic Science Learning Center. Sickle Cell Disease. Learn.Genetics. 30 Jan 2013

<http://learn.genetics.utah.edu/content/disorders/whataregd/sicklecell/>.• Latest Sickle Cell Research. NIH Medline Plus. 30 Jan 2013.

<http://www.nlm.nih.gov/medlineplus/magazine/issues/winter11/articles/winter11pg21.html>.• Sickle Cell Anemia. The New York Times. 30 Jan 2013.

<http://health.nytimes.com/health/guides/disease/sickle-cell-anemia/overview.html>.• Sickle Cell Disease. www.stjude.org. St. Jude. 30 Jan. 2013.

<http://www.stjude.org/stjude/v/index.jsp?vgnextoid=0f3c061585f70110VgnVCM1000001e0215acRCRD>.

• What Is Sickle Cell Anemia?. NHLBI, NIH. National Heart Lung and Blood Institute, 28 Aug. 2012. 30 Jan. 2013. <http://www.nhlbi.nih.gov/health/health-topics/topics/sca/>.

Images• Heterozygous pedigree. 2011. Illustration. Scikaence. 30 Jan 2013.

<http://scikaence.wordpress.com/2011/03/01/sickle-cell-disease-pedigree/>.• Karyotype of Sickle Cell Disease. 2011. Scisosbiol. 30 Jan 2013.

<http://scisosbiol.wordpress.com/2011/03/02/the-karyotype-of-the-sickle-cell-disease/>. • Sinauer Associates. Sickle-shaped (left) and normal (right) red blood cells. 2008. Illustration. Scitable.

30 Jan 2013. <http://www.nature.com/scitable/content/21172/Sadava_12_18_FULL.jpg>.