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Deleted tryptophan
1%
4/330
Deleted glycine
2%
6/330
Glutamic acid to valine
74%
244/330
Glutamine to valine
19%
62/330
Inserted lysine
2/330
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The presentation and peripheral blood smear are most consistent with Sickle cell anemia, an autosomal recessive disease caused by a point mutation in the beta-globin chain, resulting in a valine substitution for glutamic acid. The amino acid substitution that generates HbS results in erythrocyte polymerization at a lower oxygen tension. This polymerization leads to morphologic changes to the erythrocyte and the characteristic "sickled" appearance as shown in Figure A. Mousa et al. describe review the diagnosis and management of sickle cell disease (SCD). SCD is a wide-spread inherited hemolytic anemia due to a point mutation leading to a valine/glutamic acid substitution in the beta-globin chain, causing a spectrum of clinical manifestations in addition to hemolysis and anemia. Mehta et al. review sickle cell disease pathophysiology. They state that the sickling process affects not only red blood cells, but also vascular endothelium, white blood cell function, coagulation, and the inflammatory response. Sickle cell disease manifestations include invasive infections, painful episodes, acute chest syndrome, strokes, and chronic pulmonary hypertension. Illustration A is a diagram depicting the appearance of sickled erythrocytes compared to normal erythrocytes. Incorrect Answers: Answers 1-2, 4-5: These mutations are not the most common in sickle cell anemia.
4.3
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