The Evolutionary History and Clinical Relevance of Hemoglobin A Literary Review

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Mia Dragich
Cody Kisner
Joshua Gross


By Mia Dragich, Biological Sciences; Cody Kisner, Biological Sciences

Advisor: Joshua Gross

Presentation ID: 239

Abstract: In this presentation, we provide a brief review of the evolution of the hemoglobin protein, and its relevance in clinical medicine. Hemoglobin provides an excellent opportunity to study the evolutionary mechanisms given that it has evolved through genomic duplication and neofunctionalization. Modern hemoglobin proteins famously transport oxygen to and from different organs and cells, however, ancestral globin-like molecules originally carried oxygen away from organelles due to its harmful reactivity. The genetic features that allowed oxygen binding in ancestral proteins have been surprisingly well conserved in modern organisms, however the downstream functions of oxygen binding have been dramatically altered. Following multiple, independent whole genome duplication events, physiological distinctions between different oxygen binding proteins have arisen. These genetic changes have culminated in an incredible functional diversification of oxygen transport, and expanded the consequences of genetic aberrations. Further, we also investigated clinical abnormalities of hemoglobin, namely a class of diseases called "hemoglobinopathies". The cause of this group of disorders stems from inheritance of mutations in globin and other related genes. Mutations can be found in both coding and regulatory sequences, impacting function and/or expression hemoglobin. Thus, these diseases can be categorized based on abnormalities in hemoglobin structure or amount. Some consequences of insufficient oxygen delivery include a variety of conditions showing symptoms of hypoxia and anemia. This scholarly review demonstrates that insight to complex disorders, such as hemoglobinopathies, can be comprehensively understood through the lens of evolution. This in turn may provide deeper insight to underlying mechanisms of diseases of the hemoglobin protein.

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Category: Cellular & Chemical Worlds