This case, about a specific mutant of hemoglobin, focuses on visualizing and understanding the molecular basis of why an infant turned blue soon after birth and how the cyanosis resolved.
Adapted from: Happy Blue Baby v 1.0
The Happy Blue Baby
Overview: This case explores the reasons for why an otherwise healthy infant turned blue, soon after birth. All tests done in the neonatal intensive care unit were unable to diagnose possible reasons for the cyanosis, so the infant was taken to a specialist. The case begins with the clinical data available at birth and walks the student through possible mechanisms based on how oxygen is delivered in newborns. Additional genetic testing data are provided, leading the student to discover the specific variant of hemoglobin present in this real patient. Molecular explorations in the case focus on understanding the structural basis of the cause, heredity, and long-term impact of the rare mutation identified in the infant.
Learning Objectives: The case was developed to enable biochemistry students to experience how chemical interactions stabilize a protein structure and enable protein-ligand interactions. This case is specifically designed to align with the objectives in a first-semester biochemistry course. By the end of the case students will apply their understanding of biomolecular structure-function relationships at all levels of protein structure, recognize the intersection of genetic data, protein structure, protein function, and clinical phenotypes, analyze ligand-protein interaction data, and demonstrate problem solving skills given multiple possible explanations.
Molecules explored: The primary molecule studied in this case is hemoglobin. Visualization and explorations of various hemoglobin structures include those of native, mutant, and variant proteins.
Implementation: The case can be implemented entirely online, using a flipped approach, and/or through in-class discussions.
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