CASE STUDYMark Stage

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.

CASE STUDY

•What would your initial diagnosis be for Frank?

CASE STUDY

•What tests would you run to verify your initial diagnosis?

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

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.

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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 – alphaGreen and red – beta Ball and stick – heme

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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.

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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.

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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

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.