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Infant patient previously diagnosed with circulatory problems and anemia.…
Infant patient previously diagnosed with circulatory problems and anemia. A Microscopic examination of red blood cells show banana shaped cells recognized as sickle cell disease. Family history shows sickle cell disease.
Upstream
Direct Upstream cause
Sickle cell disease is an inherited condition cause by defects , called mutations, in the hemoglobin gene that helps carry oxygen through the arteries to all cells in the tissues of the body.
Background
Sickle cell anemia begins in DNA as a single code letter change which alters one of the amino acids in the hemoglobin protien. Instead of Glutamic acid in position, Valine takes its place and then causes the hemoglobin molecules to stick together. Long fibers are formed which distorts red blood cells shape.
Relevant Anatomy
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structure of proteins - primary, secondary, tertiary, quaternary
Primary - Specific sequence of amino acids that combine by undergoing dyhydration reaction that results in a peptide bond.
Secondary - Amino acid sequence of a polypeptide folds into a more compact structure forming a helix structure that has a polypeptide back bone.
Tertiary - polypeptide forms and refolds to assume three-dimensional shape called tertiary structure
Quaternary - contain more than one polypeptide and adopt a tertiary structure and then assemble via intermolecular interactions. Over all structure of a protein from polypeptide subunits.
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Relevant Physiology
Cell structure
Cytoplasm - holds organelles in place, mostly water and salt, and keeps cell structure.
Cell Membrane - primary function is to protect cell, permeable to ions and organic molecules.
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Organelles function
Chromatin - packaging of DNA, protects DNA structure and sequence.
cell membrane - primary function is to protect cell, permeable to ions and organic molecules.
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Golgi apparatus - sorting and packaging of proteins for secretion, transport of lipids, creation of lysosomes
Lysosomes - stomach of the cell, eliminate excess or old organelles and viruses
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Amino acids function - building blocks of proteins, synthesis of hormones, function in neurotransmitters
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