Transcript Sickle Cell Anemia

Sickle Cell Anemia
Katie Coltharp and Mariela Saenz
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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)
Names of Disorder
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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
Type of Disorder
Pedigree
Aa
Aa
AA AA
AA
Aa
Disease Present
AA
AA
Aa
AA
AA
Carriers
Aa
Aa
aa
Aa
AA
AA
AA
Disease Absent
• Most common symptom is fatigue.
• Others include:
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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
Symptoms of the Disorder
• 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.
Diagnostic Testing
• 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.
Prognosis
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)
Treatment
• Stem cells
Transplantation of blood-forming stem cells
• Brain function
Current Research
• 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.
Genetic Counseling
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A AA AA
A AA AA
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Aa Aa
A AA AA
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Aa Aa
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Aa Aa
A
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A AA Aa
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Aa
aa
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aa
aa
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Aa
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Aa
aa
Punnett Square
• http://www.youtube.com/watch?v=o18ow1yuL8o&featur
e=player_embedded
A Great Story
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=0f3c061585f70110VgnVCM1000001e0
215acRCRD>.
• 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>.
Credits