Katie 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 ID: 601643
Download Presentation The PPT/PDF document "Sickle Cell Anemia" is the property of its rightful owner. Permission is granted to download and print the materials on this web site for personal, non-commercial use only, and to display it on your personal computer provided you do not modify the materials and that you retain all copyright notices contained in the materials. By downloading content from our website, you accept the terms of this agreement.
Slide1
Sickle Cell Anemia
Katie Coltharp and Mariela SaenzSlide2
Names of Disorder
HbS diseaseHemoglobin S disease
Hemoglobin SS disease
Sickling
disorder due to hemoglobin SSickle cell disease (broad term)Sickle cell disorders (broad group of conditions)Slide3
Type of Disorder
Chromosomal disorderMutation in a gene on chromosome 11
Autosomal
recessive
About 5% of the world’s population arecarriers, and approximately 1% areactually affected.
KaryotypeSlide4
Pedigree
Aa
Aa
Aa
AA
AA
AA
a
a
AA
Aa
AA
AA
Aa
AA
AA
Aa
Aa
AA
AA
Disease Present
Disease Absent
CarriersSlide5
Symptoms of the Disorder
Most common symptom is fatigue.
Others include:
Headaches
DizzinessPaler skin than normal or jaundiceShortness of breathPain throughout the body (bones, joints, lungs, etc.)
Ulcers on the lower
legs (not usually in children)
Vision problemsSlide6
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.Slide7
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.Slide8
Treatment
Common
Blood
transfusions
Pain medicinesAntibiotics to prevent bacterial infections (common
in children with sickle cell
disease)
In Some Cases
Dialysis or kidney transplant for kidney diseaseGallbladder removal in people with gallstone diseaseHip replacementSurgery for eye problemsTreatment for overuse or abuse of narcotic pain medicinesWound care for leg ulcersMedicine to reduce the number of pain episodes (including chest pain and difficulty breathing) Slide9
Current Research
Stem cells
Transplantation
of blood-forming stem cellsBrain functionSlide10
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.Slide11
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
AaSlide12
A Great Story
http://www.youtube.com/watch?v=o18ow1yuL8o&feature=player_embeddedSlide13
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/>.
ImagesHeterozygous 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>.