00:00 / 00:00
Evolution and natural selection
Independent assortment of genes and linkage
Mendelian genetics and punnett squares
Alagille syndrome (NORD)
Familial adenomatous polyposis
Multiple endocrine neoplasia
Polycystic kidney disease
Treacher Collins syndrome
von Hippel-Lindau disease
Gaucher disease (NORD)
Glycogen storage disease type I
Glycogen storage disease type II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Niemann-Pick disease type C
Niemann-Pick disease types A and B (NORD)
Primary ciliary dyskinesia
Sickle cell disease (NORD)
Tay-Sachs disease (NORD)
Cri du chat syndrome
Fragile X syndrome
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Fabry disease (NORD)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Ornithine transcarbamylase deficiency
Autosomal trisomies: Pathology review
Miscellaneous genetic disorders: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
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Hemochromatosis Signs and Symptoms
Hereditary Hemochromatosis & Wilson's Disease
hemochromatosis p. 402
calcium pyrophosphate deposition disease p. 473
cardiomyopathy with p. 315
chromosome association p. 62
free radical injury p. 211
hepatocellular carcinoma and p. 399
HLA-A3 and p. 98
hemochromatosis and p. 402
in hemochromatosis p. 402
for hemochromatosis p. 402
Hemochromatosis is a metabolic disorder where the body absorbs too much iron from the food you eat.
This accumulation of iron leads to elevated iron in the blood and poisoning of tissues in the liver, pancreas, heart, pituitary gland, joints and skin.
The root -chromat- actually refers to color or the darkening of the skin that happens when iron is deposited into it.
If we take a close look at our red blood cells, we’ll notice that they’re loaded with millions of copies of the same exact protein called hemoglobin, which binds to oxygen and turns our blood cells into little oxygen transporters, and basically allow us to move oxygen to all the tissues in our body.
If we take an even closer look at those hemoglobin proteins, we’ll find that they’re made of four heme molecules, which have, right in the middle, iron.
This iron molecule is what binds to oxygen, so without iron, we probably wouldn’t fare too well, right? Right.
Normally, you actually lose a small amount of iron every day, about 1 mg, some in the sweat, some in shedded skin cells, and some in shedded cells in the gastrointestinal tract.
Most of us, through the diet, take in 10-20 mg of iron every day, and absorb about 10% of that, so 1-2 mg, which is perfect!
People with hemochromatosis, though, absorb an unusually high amount of iron, sometimes as much as 4 mg per day, even though you probably only need about 1 mg to even out your losses, right?
You’d think that absorbing more of something is good, but in this case, a net gain of about 3 mg a day comes out to about 1 g per year of excess iron in your body, leading to more than 20 g by age 40!
Most of this iron you hold on to is deposited in your organs, most notably the liver, but also in your pancreas, your heart, joints, skin, and pituitary gland.
This process of depositing iron into organs is called hemosiderosis. But hey, a little hemosiderosis over the course of a lifetime never hurt anyone, right? Wrong!
Unfortunately, all this extra iron does start doing some serious damage because iron in the body is actually pretty good at generating free radicals through the fenton reaction.
The fenton reaction is where molecules of iron 2+ are oxidized by hydrogen peroxide, producing iron 3+ and the hydroxyl radical and hydroxide ion as byproducts; now, iron 3+ can then be reduced back to iron 2+ via hydrogen peroxide again, creating a peroxide radical and a proton, and then the cycle repeats, creating this like endless loop of free radical generation.
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