Hereditary Haemochromatosis

Hemochromatosis is hereditary and the most common genetic disease in the U.S. This genetic disease is passed on

Hemochromatosis, also called iron overload, is a disease when the body absorbs too much iron from the food we eat and most often affects the liver, heart, pancreas, and skin. It is usually caused by genes in the body that mutate keeping them from working. Some signs and symptoms of this disease are weakness, joint pain, low libido, and/or if the disease has progressed to far diabetes or heart failure. Hemochromatosis is one of the more difficult diseases to diagnose because many symptoms are nonspecific and usually many people don’t show as many symptoms except elevated iron levels in their blood. Most will be treated with blood transfusions until the normal level of iron is reached. If diagnosed early the prognosis is excellent with possible checkups or phlebotomies.

Iron is an important nutrient because it helps carry oxygen in the hemoglobin in red blood cells around the human body. When a healthy iron supply is reached, the body immediately stops absorbing the nutrient, and just lets it past through the digestive system. However, people with hemochromatosis absorb all the iron from the food consumed, past healthy levels.­­­­­­ All the extra iron spreads throughout the body, and unevitably causes great damage to major organs and almost all other parts of the body. According to Survival of the Sickest, "hemochromatosis can lead to liver failure, heart failure, diabetes, arthritis, infertility, psychiatric disorders,... cancer," and other diseases if left untreated (Maulem

Hemochromatosis is when there is excess iron in the body. It is a genetic disorder that is passed down each generation and is inherited by the offspring. Iron overload directly affects the circulatory system but eventually the complications can affect the whole body and many major organs. In addition, hemochromatosis can show no symptoms but the body sometimes shows

Secondly, patients with Wilson’s disease have decreased levels of ceruloplasmin. This disrupts the iron homeostasis which results in the accumulation of both iron and copper in the liver. This information is important with diagnosing the disease. Another disease, such as hemochromatosis also exhibit high levels of iron in the body. With this knowledge, when diagnosing patients, physicians should test for both diseases to avoid wrong medical

The mineral iron (Fe) is a crucial substance for the human body. Many parts of the body, including red blood cells, require iron in order for the body to function normally. Only specific amounts of iron are absorbed by the body to maintain homeostasis. However, iron is a very toxic mineral so if there is too much iron stored in the body, it can lead to serious consequences. People that suffer from haemochromatosis, a hereditary iron disorder, are unable to regulate the amount of iron absorbed from their diet. Almost all iron in the intestine is absorbed into the blood stream and because the human body has no major way to rid of excess iron, it is stored in organs and joints of the body where it can cause serious harm. Typically, the body stores one gram or less of iron but people with haemochromatosis can have up

The first is a transition point mutation, in which at nucleotide 845 a guanine in replaced by adenine. This results in a missense mutation that replaces a tyrosine for a cysteine at amino acid 282 (C282Y). This mutation affects the function and structure of the HFE protein; “it prevents the formation of a disulfide bridge in the HFE α3 domain, impairing the β2-microglobulin and the transferrin receptor-1 (TfR1) interactions.”7 TfR1 is required for the uptake of transferrin-bound iron into cells, and β2-microglobulin helps regulate the expression of hepcidin in the liver which is mentioned later in the

It can be life-threatening, especially to children ("Iron poisoning", 2017). Moderate toxicity of iron is considered as 20mg/kg to 60mg/kg ("Iron poisoning", 2017). Anything more than 60mg/kg can cause severe toxicity, and may lead to severe morbidity and mortality ("Iron poisoning", 2017). There are 5 different stages of iron toxicity, however, not every individual will go through every stage. During the first 6 hours, the first stage, mainly gastrointestinal symptoms will arise ("Iron poisoning", 2017). This includes abdominal pain, vomiting, diarrhoea, hematemesis (vomiting of blood) and hematochezia (blood in faeces) ("Iron poisoning", 2017). The second stage, between 6 to 24 hours, often appears to be a recovery stage, when in fact the toxic amount of iron consumed is absorbed (Yuen & Gossman, 2017). Recurrence of gastrointestinal symptoms, shock and metabolic acidosis, iron-induced coagulopathy, hepatic dysfunction cardiomyopathy and renal failure are the symptoms that occur during the next 6-72 hours, the third stage (Yuen & Gossman, 2017). The fourth stage occurs over the next 2 to 5 days and involves the increasing of aminotransferase levels and the possible further development to hepatic failure ("Iron poisoning", 2017). The fifth and final stage lasts 4 -6 weeks and includes pyloric or proximal bowel scarring and obstruction due to the gastrointestinal mucosa healing (Yuen & Gossman,

Iron Storage Disease (ISD) is a serious condition that affects many animals, including rhinoceroses. ISD is only found in browser rhinoceroses (African black, Diceros biacornis, and Sumatran, Dicerorhinus sumatrensis) and not in grazers (African white, Ceratotherium simum, and Indian, Rhinoceros unicornis). This disease is also only found in captive animals and is not found in animals in the wild. Iron is an essential trace element and is important in red blood cell formation, oxygen transport, in the production of ATP, and in enzyme systems (Molenaar, 2005). ISD occurs when there is more iron than normal circulating throughout the body, or when it is being deposited within cells (Clauss, 2012). When the hemosiderin, or iron storage molecule,

Iron overload is the major cause of morbidity for thalassemia patients. Even non-transfused patients develop secondary iron overload, due to increased absorption of dietary iron. Iron overload is a leading cause of mortality and organ

1 mcg/L of serum ferritin corresponds to approximately 8 mg of stored iron” (p. 264).

As shown in this case study, the patient was hospitalized very often due to severe acute pain caused due to microvascular occlusion. There can be two possibilities for the symptoms of pain- increase in intra-medullary pressure or periosteum of the soft tissue of her bones. Her report shows a very high serum ferritin level which is due to mutation in hemochromatosis gene (HFE). This increased the level of iron in her body. Due to abnormal liver enzymes, the liver eventually stopped carrying out its normal function causing Alanine Aminotransferase(ALT) to increase. Her ALT level was persistently increasing which means she can be suffering from acute viral hepatitis. She is suffering from diabetes due to the formation of glycated protein. She didn’t get her periods on time because of the lack oxygen being transported throughout the body. Hypogonadotropic hypogonadism can be observed in her body due to some problem in the hypothalamus or pituitary gland. The reason behind abnormal FSH, LH and Oestradiol in her body is because of iron deposition in the endocrine gland. One more reason for the increase in iron level can be due to multiple blood transfusion in her past. It is appropriate to undergo chelation therapy since her liver iron

Iron balance is mainly regulated by its absorption and storage, as there are a lack of iron excretory mechanisms (Hansen, et al., 2014). Iron is absorbed in the duodenum and is bound to transferrin, a protein which transports it throughout the bloodstream. Iron is then stored in a non-toxic form by ferritin which allows iron to be released as it is needed in a controlled fashion (Bogdan, et al., 2016). In the event that iron levels become too high, the body secretes hepcidin. Hepcidin is a peptide hormone produced by the liver which blocks absorption of the dietary iron from entering the bloodstream. (Hansen, et al., 2014). This allows the body

Researches done in the past have showed that iron deficiency can cause physiologic, morphologic, and biochemical changes in the orangs affected by it before there is a change in hematocrit (Beard JL, 2001).

The first disease to be discussed by Dr. Moalem is an inherited disease called hemochromatosis. Hemochromatosis is a blood disorder where the body is incapable of metabolizing iron correctly. When a sufficient amount of iron is present, the body should be able to notice it, and stop its iron absorption. In a case where hemochromatosis is involved, the body cannot detect this. Consequently, the body continues its iron absorption, causing a massive iron buildup in the bloodstream. The iron overload can ultimately lead to liver failure, heart failure, diabetes, arthritis, infertility, cancer, psychiatric disorders, and death. Abnormal heartbeat rhythm and joint pains are some symptoms of having hemochromatosis. It is difficult to diagnose this