BIOLOGY 1A03 Lecture Notes - Lecture 3: Hfe Hereditary Haemochromatosis, Iron Overload, Ejection Fraction
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BIOLOGY 1A03 Full Course Notes
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1. -free iron binds to and damages molecules so ferritin acts as a protein escort. Iron overload occurs when transferrin and ferritin are saturated with iron ions. This causes accumulation of free iron in the blood. High levels of serum ferritin indicate iron overload. Caused by mutation to hfe gene that regulates iron and controls iron absorption and deposition. Genetic testing can identify if family members have the disease. If parents are live, them having the gene can confirm the disease. Iron enters myocytes through voltage gated calcium channels. Iron initially deposited in ventricular myocardium than atrial myocardium. Free radicals are highly reactive and cause cell death, this can lead to cardiomyopathy, leading to arrhythmia. Left ventricular ejection fraction is how much blood left ventricle pumps out with each contraction. Fraction of edv ejected during an average heartbeat. Equal to stroke volume divided by end diastolic volume. Affected by functionality of valves (can cause blood to back up to atria)