Zola, a 2-year old girl from Southern Africa recently moved to the US and has been experiencing numerous health issues including painful wounds that are slow to heal, swollen fingers and toes, fever, paleness, and pneumonia-like symptoms. An initial diagnosis would be anemia, and blood tests such as hemoglobin electrophoresis would be performed to diagnose sickle-cell anemia, which is caused by a genetic mutation resulting in abnormal sickle-shaped hemoglobin. Treatment options include medications, blood transfusions, and potentially a bone marrow transplant.

1. Consider the Following Patient
 Two year-old Zola and her parents just recently
moved to the United States from Southern Africa.
Zola has been having many painful health
problems and developmental delays. Zola has
had troubles healing from cuts and wounds and
she also suffers from severe swelling in her
fingers and toes. Those symptoms are
accompanied by fever, paleness, dehydration,
fatigue, and pneumonia like symptoms.

2. What would your initial diagnosis be for
Zola?
 Anemia

3. What tests would you preform to strengthen your
diagnosis for Zola?
 Blood Testing
 Hemoglobin electrophoresis – used to separate abnormal
hemoglobin's by their charged migrations down an electrical field
 Hemoglobin S results in sickle-cell anemia from an amino acid substitution
of Val instead of Glu. Valine has a R group with no electrical charge
whereas glutamate has a negative charge. Therefore hemoglobin S has
two fewer negative charges than the normal hemoglobin A.
 Hemoglobin fractionation by HPLC
 Isoelectric focusing
 Genetic Testing

4. SICKLE-CELL ANEMIA
By: Madison Hanson

5. Hemoglobin
 Protein in your red blood cell that carries
oxygen to your cells
 Oxygen attaches to the iron containing part of
hemoglobin
 Blood contains iron discovered in 1747
 Chemical structure of hemoglobin discovered
in 1960s
 Depending on health, hemoglobin is able to
carry up to four oxygen molecules

6. Hemoglobin Molecular
Structure
• The amino acids form alpha
helices
• The alpha subunits are red (2)
• The beta subunits are blue (2)
• The iron containing heme
groups are green (4)
• Hydrogen bonds stabilize
hemoglobin
• Salt bridges and the
hydrophobic effect bind the
polypeptides

7. Case Study
 Sickle-cell anemia is diagnosed by the type of
hemoglobin found in the blood
 Normal hemoglobin A is disk shaped and flows
throughout the blood vessels with ease
 Sickle-cell hemoglobin S is C shaped and will
build up and cause obstructions in the blood
vessels

11. Treatment
 Medications
 Antibiotics to lower risk of infection
 Pain-relieving medication
 Hydroxyurea – decreases serious complications, reduce need for
blood transfusions, and prevents sickling of blood cells
 Ribonucleic Reductase Inhibitor - interferes with the growth of the abnormal
hemoglobin and produces more fetal hemoglobin. This medication is also
used for cancer treatment where it interferes with the growth of the cancer
cells by inhibiting the formation of deoxyribonucleotides, which are the building
blocks for DNA. Essentially, this medication does not allow the S phase of the
cell cycle to replicate the DNA, therefore reducing the replication of the cancer
cells.
 Blood Transfusions
 Bone Marrow Transplant (rare)

12. References
Chhabra, Namrata. "Hydroxyurea in the Treatment of
Leukemia." Biochemistry for Medics - Clinical Cases.
N.p., 13 Mar. 2016. Web. 14 Dec. 2016.
"Facts About Sickle Cell Disease." Centers for Disease
Control and Prevention. Centers for Disease Control and
Prevention, 17 Nov. 2016. Web. 11 Dec. 2016.
"Haemoglobin." The Oxford Companion to the Body.
Encyclopedia.com, n.d. Web. 11 Dec. 2016.
Indian J Hematol Blood Transfus. 2014 Jun; 30(2): 91–96.
Published online 2013 May 24. doi: 10.1007/s12288-013-
0261-4
Sickle Cell Anemia. N.p., 11 June 2014. Web.
"Sickle Cell Tests." Sickle Cell Tests: The Test. N.p., n.d. Web.
11 Dec. 2016.