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Hi this is tom from zero finals comm in this video I'm going to be going through hemochromatosis you can find written notes on this topic at zero defiance comm slash hemochromatosis or in the gastroenterology section of the bored finals' medicine book so let's jump straight in mitosis is an iron storage disorder that results in excessive total body iron and the deposition of iron in tissues the human hemochromatosis protein which is abbreviated to H Fe is encoded by a gene that's located on the chromosome 6 and the majority of cases of hemochromatosis relate to mutations in this gene however there are other genes that can also cause the condition the hemochromatosis genetic mutation is inherited in an autosomal recessive way and the gene is important in regulating iron metabolism in the body which is why it causes an iron storage disorder so what is the presentation of hemochromatosis well hemochromatosis usually takes a bit of time before enough iron builds up in the body for it to become symptomatic, so it usually presents after the age of 40, and it actually presents later in females due to menstruation acting to regularly eliminate blood and iron from the body, so it takes longer for those iron stores to build up to the point where it causes symptoms and these symptoms usually come on after the menopause what kind of symptoms do you get well they can present with chronic tiredness joint pain because of iron deposits in the joints causing arthritis they can present with pigmentation or a bronze discoloration of their skin because of the iron deposits in the skin it can present with hair loss they can actually present with sexual problems such as a reptile dysfunction or amenorrhea, and they can present with cognitive problems like problems with memory and mood disturbance gnosis well the main diagnostic method is to perform a serum ferritin level and ferritin is a type of iron in the blood Burton is also an acute phase reactants that it goes up when there are inflammatory conditions in the body this makes ferritin slightly unreliable because it can be high for causes other than hemochromatosis we can perform a transferring saturation which is helpful in distinguishing between a high ferritin caused by iron overload in which case the transferring saturation will be high from a ferritin caused by other causes like inflammation on our colleague fatty liver disease in which case the transferring will be low or normal if serum ferritin and transferring saturation of both hi this indicates iron overload and there's no other explanation for these results then genetic testing can be performed to confirm the diagnosis of hemochromatosis we used to perform a liver biopsy, and we did something called a pearls stain and that could be used to establish the iron concentration in the parenchymal cells of the liver and this used to be the gold standard investigation for diagnosing hemochromatosis but since we have genetic testing we don't use this method...
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