BIOC 460: Case Study-sickle cell anemia

1. CASE STUDY
Mark Stage

2. CONSIDER THE FOLLOWING
PATIENT
• Frank Butterfield is a 5 year old boy who enjoys swimming, riding his bike, and
playing baseball. However, ever since Frank was a baby his parents have noticed that
he becomes tired faster than the other kids and must take twice the amount of brakes
throughout a day. In addition, Frank also experiences episodes of unexplained pain in
his chest and knees that are few and far apart but uncommon in a 5 year old. Upon
the swelling of Frank’s hands and feet, his parents took him to the emergency room.

3. CASE STUDY
• What would your initial diagnosis be for Frank?

4. CASE STUDY
• What tests would you run to verify your initial diagnosis?

5. CASE STUDY
• Hemoglobin electrophoresis
 Showed that Frank had two abnormal hemoglobin genes.
• Microhematocrit Centrifugation
 Showed that Frank’s blood contained a 27% hematocrit value.
• Blood Test
 A complete blood count showed that Frank’s hemoglobin levels were 7 g/dL (normal 5 year old levels
are between 11.5-14.5 g/dL)
• High performance gel chromatography

6. SICLE CELL ANEMIA
Sickle Cell Anemia is a hereditary disease characterized when two abnormal
hemoglobin genes produce hemoglobin S.
Symptoms include anemia (fatigue), episodes of chronic pain throughout the
body, swollen hands and feet in children, increased susceptiblity to infection,
delayed growth, and vision problems.
Today babies are tested soon after birth to promote earlier detection and help
doctors manage the disease.
https://www.pinterest.com

7. HEMOGLOBIN
• Hemoglobin is the protein contained in
red blood cells that is responsible for
delivery of oxygen to the tissues.
• Hemoglobin is formed by the
combination of heme with globin. Globin
is made up of four polypeptide chains,
while heme is a iron containing
compound.
• Hemoglobin has two states: a high
affinity and a low affinity
Purple and blue – alpha
Green and red – beta
Ball and stick – heme
http://www.chemistry.wustl.edu

8. SICKLE CELL
• The mutation in the hemoglobin gene changes the shape
of the hemoglobin molecule, allowing it to clump
together.
• This change in shape and clumping decreases the amount
of oxygen able to bind to the iron in the heme compunds
in the protein.
• When red blood cells carrying mutant hemoglobin are
deprived of oxygen, they become "sickle-shaped" instead
of the usual round shape.
https://www.pinterest.com/slprussien/sickle-cell/

9. HEMOGLOBIN S
• At the sixth position, glutamic acid is repaced
by valine on the beta-globin chain and lysine
on other beta-globin chain.
• These mutations are responsible for variations
in secondary and tertiary structure.
http://julieteaslickby411.blogspot.com

10. TREATMENT
• Medictaions are used for relieving pain and preventing infection.
 Hydroxyurea reduces the frequency of painful crises and can substitute for the need of blood
transfusions. Hydroxyurea stimulates production of fetal hemoglobin, a type of hemoglobin found in
newborns that helps prevent the formation of sickle cells.
 Hydroxyurea has been shown to increase your risk of infections, and there is some concern that long-
term use of this drug may cause tumors or leukemia.
• Bood transfusions
• Supplemental oxygen
• Stem cell transplant
• Gene theropy

11. REFERENCES
• Mayo Clinic Staff. "Sickle Cell Anemia." Sickle Cell Anemia Treatments and Drugs - Mayo
Clinic. Mayo Clinic, 11 June 2014. Web. 19 Dec. 2016.
• "Hemoglobin/Oxygen Binding." Hemoglobin and Oxygen Binding. N.p., n.d. Web. 19 Dec.
2016.
• "A Case Study of the Effects of Mutation: Sickle Cell Anemia." A Case Study of the Effects
of Mutation: Sickle Cell Anemia. University of California Museum of Paleontology, n.d.
Web. 19 Dec. 2016.
• Saha, Devdutt. "Hemoglobin: Introduction, Composition, Derivatives, Types and
Abnormality." Biology Discussion. N.p., 21 Dec. 2015. Web. 19 Dec. 2016.
• Billett, Henny H. "Hemoglobin and Hematocrit." Clinical Methods: The History, Physical,
and Laboratory Examinations. 3rd Edition. U.S. National Library of Medicine, 01 Jan.
1990. Web. 19 Dec. 2016.