Hereditary hemochromatosis also known as HH and classic hereditary hemochromatosis is an inherited disorder that absorbs an abundant amount of iron in the body. The increased intake causes damage to the organs, which leads to many symptoms. Mutations of the HFE gene cause hereditary hemochromatosis, which is inherited as an autosomal recessive trait on chromosome 6–where the HFE gene is located. The mutations create an abnormal function that leads to a substation of the 282nd amino acid, making cysteine into tyrosine; which affects HFE’s protein interaction with transferrin receptor. Causing the body to increase the amount of iron absorbed. The normal function of the HFE gene is to interact with transferrin receptors to maintain iron homeostasis. The autosomal recessive trait only turns into a disease, if an individual inherits the same abnormal gene for the same trait from each parent. If the individual receives one normal gene and one disease gene, then the individual …show more content…
Phlebotomy might be done for about two year, once or twice a week. The procedure is safe and simple and will help initially stabilize levels of ferritin and transferrin in the blood. There are some cases where “phlebotomy can’t be conducted due to anemia, cardiac disease or advanced cirrhosis”, so deferoxamine may be prescribed. “The drug deferoxamine binds itself to iron in the body allowing it to dissolve in water and excrete”. In conclusion hereditary hemochromatosis is a common disorder and can result in many diseases, however only a low number of people see any symptoms. The majority of people that develop hereditary hemochromatosis are Caucasian because of genetic factors, though other races can develop it too. The best way to treat hereditary hemochromatosis is as early as possible before the increased amount of iron can infect the
In chapter one it talks about how hemachromatosis is a hereditary disease and it’s the most common genetic disease for people of European descent, in which the body can't register that it has enough iron. So it keeps absorbing as much of it as possible, and this can have very, serious side effects (including death). Iron is very important for bacteria, cancer, and other things to grow. The way this disease is most easily treated is blood letting. Looks like all those crazy blood-letting, leech-sticking doctors weren't mistreating everyone. What is the author's argument for why this disease stuck around? To really simplify things: during the black plague in Europe, people with more iron in their system were more likely
Iron Deficiency Anemia affects millions of individuals across the world. This disease strikes many more women than men and has harmful effects on all who suffer from this deficiency that causes oxygen-carrying capacity to decrease. The causes can vary amongst different groups, but the aggravating symptoms remain constant. Much of the research on Iron Deficiency Anemia concentrates on not only the treatment of this disease, but also the prevention of it. To attain a better understanding of how to treat this problem, one must clearly know what Iron Deficiency Anemia means, what causes this disease, the effects of it, and finally how to cure it.
Hemochromatosis is a genetic disease in which there is too much iron that builds up in your body, this is referred to as an iron overload. Iron is an essential nutrient found in many foods but can be toxic to our bodies if we have to much. “Normally, humans absorb about 8-10% of the iron found in foods that they eat.” People with Hemochromatosis can absorb up to four times more iron than a normal human being. Since our bodies have no natural way to get rid of the extra iron, it gets stored in your body tissue including the liver, heart, pancreas and many other areas of our body can also be infected by this iron overload.
The first disease Moalem discusses, hemochromatosis, is a hereditary disorder that he himself lives with. It causes excess iron buildup throughout the body, damaging “the joints, the major organs, and overall body chemistry” (p. 13). Hemochromatosis can lead to “liver failure, heart failure, diabetes, arthritis, infertility, psychiatric disorders[, ...] cancer” (p. 13) and, in the end, death. Although it is more common in some communities than others, today the low-penetrance disease only manifests in 1 in 200 people.
Sharon Moalem discusses is hemochromatosis. Hemochromatosis is a disorder that disrupts iron metabolization, by absorbing excess iron instead of passing it through the body, causing iron to build up in the organs, especially the liver, heart and pancreas. The symptoms are joint pain, fatigue, and weakness. It was first described by Armand Trousseau in 1865, but is thought to have originated with the Vikings and spread throughout Northern and Western Europe. The genetic variant for hemochromatosis is very common among people of Western European descent, but only one in two hundred of those people have the disease with all of the assorted symptoms. Hemochromatosis can be diagnosed through blood and genetic tests, and it can be treated through the ancient practice of phlebotomy, or bloodletting. This lowers the amount of iron in the blood, and in the body, to safe levels. But although it is easily treatable, if left unchecked, hemochromatosis can lead to serious complications. As Dr. Moalem says, “Unchecked, hemochromatosis can lead to liver failure, heart failure, diabetes, arthritis, infertility, psychiatric disorders, and even cancer. Unchecked, hemochromatosis will lead to death.” Thus, before the days of genetic and blood testing, hemochromatosis was a very dangerous disease, and often caused death in middle age. It is here that Dr. Moalem raises the question: if hemochromatosis was so deadly, why was it passed down for so many generations? Unless it provided our ancestors with an advantage, such a damaging disease would not have remained in their gene
Sickle cell anemia is a hereditary disorder that mostly affects people of African ancestry, but also occurs in other ethnic groups, including people who are of Mediterranean and Middle Eastern descent. More than 70,000 Americans have sickle cell anemia. And about 2 million Americans - and one in 12 African Americans - have sickle cell trait (this means they carry one gene for the disease, but do not have the disease itself).
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.
Take hemochromatosis, a hereditary condition that causes iron to accumulate in a person's body. A person having hemochromatosis
Iron deficiency anemia, one of the most common types of anemia, is a blood disorder where
Hemochromatosis is a deadly disease in which the body believes that it never has enough iron. The body, as a result is that iron is not filtered out through the intestines, it is always entering the body. This iron runs out of places to be stored, and is spread throughout the body. These iron stores eventually end up changing the body and causing damage to major organs and joints. Hemochromatosis can lead to cancer, heart failure, and a plethora of other problems.
The first disease Moalem discusses, hemochromatosis, is a hereditary disorder that he himself lives with. It causes excess iron buildup throughout the body, damaging “the joints, the major organs, and overall body chemistry” (p. 13). Hemochromatosis can cause conditions such as “liver failure, heart failure, diabetes, arthritis,
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
Like most genes, hemoglobin genes are inherited in two sets…one from each parent(Ex. If one parent has Sickle Cell Anemia and the other is Normal, all of the children will have sickle cell trait. 4 If one parent has sickle cell anemia and the other has sickle cell trait, there is a 50% chance (or 1 out of 2) of having a baby with either sickle cell disease or sickle cell trait with each pregnancy,When both parents have sickle cell trait, they have a 25% chance (1 of 4) of having a baby with sickle cell disease with each pregnancy). HOW DO YOU KNOW IF YOU HAVE THIS TRAIT A SIMPLE PAINLESS BLOOD TEST followed by a laboratory technique called Hemoglobin Electrophoresis will determine the type of hemoglobin you have.
Hemophilia is the oldest known hereditary bleeding disorder. There are two types of hemophilia, A and B (Christmas Disease). Low levels or complete absence of a blood protein essential for clotting causes both. Patients with hemophilia A lack the blood clotting protein, factor VIII, and those with hemophilia B lack factor IX. A person with severe hemophilia has less than 1% of the normal amount of a clotting factor - either Factor VIII (8) or Factor IX (9). People without hemophilia have between 50-150% of the normal level of factor VIII or IX. There are about 20,000 hemophilia patients in the United States. Each year, about 400 babies are born with this disorder. Approximately 85% have hemophilia A and the remainder has hemophilia B.
Hemophilia is a problem with the blood in a person that causes them to bleed not any faster than normal, but they often bleed for a longer period. Their blood is missing the clotting factor (a protein in the bloodstream that works to control bleeding). Hemophilia is quite rare; roughly 1 in every 10,000 persons are born with it. Rarely, hemophilia can be an acquired disease which just means a person is not born with it, but will develop it during their lifetime. This rarity occurs when a person's immune system forms antibodies that attack the clotting factor in the blood. The entire antibody population fights against the blood to prevent the clotting factors from working properly.