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Health, Medicine, Nursing
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Human Genetics (Essay Sample)

Select one human genetic disorder from list. Then perform online search to determine: Disorders to choose: Breast Cancer Depression Down Syndrome Obesity Lupus Autism Mental Retardation Sickle Cell Disease Zellweger Syndrome Then make sure you address all the items below: 1. The origin of the disorder, i.e, what chromosomes and genes are responsible for the disorder. imaging documenting the location of the genes is recommended. 2. the mode of action of the genes to cause the disorder 3. the timeline for the disorder to present itself 4. the presentation issues of the disorder- what it look like or what does it do to the person 5. the propensity for a specific population or culture of people to be affected, more or so than other populations or cultures, and the rationale for this 6. the percentage occurrence in births 1,000 for the specific population and world-wide occurrence 7. what principle organizations are researching or providing support for those affected by this disorder ( name at least 4) 8. what progress each of these organizations has made in addressing the disorder or peripheral issues 9. whether it is a constitutional or acquired genetic disease 10. treatment (present, and potentially future) source..
HUMAN GENETICS DISORDER: SICKLE CELL DISORDER Name: Grade Course: Tutor's Name: Date Submitted: Sickle cell disorder (SCD) is a hereditary blood disorder where red blood cells (RBC) assume a crescent shape caused by a point mutation of the β-globin gene found in the haemoglobin causing the glutamic acid to be replaced by valine (Hillard, 2011). Low oxygen create lack of polar amino acid at level six of the β-globin chain inhibiting non-covalent aggregation of haemoglobin HbS distorting RBC into a crescent shape. SCD is from mutation of a single nucleotide from GAG to a GTG codon. The crescent RBC reduces elasticity inhibiting the passage of RBC through capillaries and on normalcy; elasticity isn't regained leading to haemolysis. The lifetime of SCD in healthy RBC is 90-120 days while for sickle cells, 10-20 days. SCD crisis arise when sickle RBC block blood flow to the limb and organs inducing pain, organ damage, swelling of the feet of infants, fever, nose bleeds, frequent upper respiratory infections and jaundice(Debra, 2002). World...
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