PNB 2265 Lecture Notes - Lecture 3: Hydrophile, Decompression Sickness, Genetic Disorder
27 Jan 2017
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Larger than normal cell size (excessive growth: loss biconcavity, spherical, bloated, fewer # of rbcs in view bc each rbc occupies larger volume. Important for cell cycle regulation (get stuck in g phase) Gastric bypass: secretions inside stomach absorb vitamin b12 in stomach, reroute food around portion of stomach, do not get benefits of those secretions (do not absorb vitamin b12) Protein does not fold properly (hemoglobin chain structure) Macrocytic: could be higher, not a good way for diagnosing bc cells could be larger and less abundant even causing a lower hematocrit. Single point mutation in the beta chain results in misfolding of the beta chains: only affects beta hemoglobin chain, genetic disorder with simple genetic cause, one small change in structure can strongly influence cell. The effect varies in severity depending upon expression level and the specific mutation. First recognized molecular disease, identified more than 60 years ago. Caused by a mutation of the beta globin gene in hemoglobin.
