MMSC 433 Exam 2 Questions and Answers Grade A+
MMSC 433 Exam 2 Questions and Answers Grade A+ hemoglobinopathy - ️️ genetic mutation in the genes that affect hemoglobin synthesis, leading to a diseased hemoglobin molecule qualitative hemoglobinopathy - ️️ gene mutation leads to altered amino acid sequence in the hemoglobin molecule, affecting the structure and function of the hemoglobin -amino acids with different charges and biochemical characteristics leads to dysfunctional and unstable hemolgobin -e.g. sickle cell disease, hemoglobin C disease, etc. quantitative hemoglobinopathy - ️️ reduced rate of globin chain production leads to decreased amounts of hemoglobin -e.g. thalassemias, etc. hemoglobin S mutation - ️️ a2B2(6glu-val) -in the 6th position of the beta chain glutamic acid is replaced by valine -change in charge of +1 leads to changes in solubility, polymerization of hemoglobins (leads to sickle shaped cells), crystal formation and decreased O2 carrying capacity hemoglobin C mutation - ️️ a2B2(6glu-lys) -in the 6th position of the beta chain glutamic acid is replaced with lysine sickle cell disease clinical manifestations - ️️ -reversible sickling -irreversible sickling -vasoocclusive crisis (VOC)/ painful crisis -autosplenectom
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