Genetic disorders are problem caused by one or more abnormalities in the genome, especially a condition that is present from birth. My genetic disorder is called hemochromatosis. What hemochromatosis does is it affects the body’s ability to absorb iron. Because hemochromatosis is a genetic disorder, it is passed along from generation to generation and that is the only way that it can be passed along. There is around a total of one million people in the United States has contracted the genetic disorder of Hemochromatosis. There is a multitude of symptoms that can occur in the short term and the long term. If you receive two of the abnormal HFE genes from the combination of your parents then you may develop hemochromatosis, you would also be a carrier for future generations. If you only receive one mutated gene than you would become what is known as a carrier. The result of the genetic mutation are the symptoms of joint pain, abdominal pain, fatigue, and …show more content…
This can also test how well your body can bind itself to iron. If there is a large amount of iron still in the body then it would be inferred that you do have hemochromatosis because of the excess amount of iron. The other way that you can be diagnosed for hemochromatosis is by having a liver function test which can see if iron overload has affected the liver. If the liver is not functioning correctly that would be a sign of hemochromatosis. Once you find out if you have hemochromatosis or not the treatments involve a blood removal, also called a phlebotomy, in order to drain out iron. The other option, and less popular one, is medication to remove Iron from the blood stream. This medication can either be injected into the blood or taken by pill (Mayo Clinic Staff, 2015). There is also a DNA test that you can take that can test for the mutated gene of
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 hereditary and the most common genetic disease in the U.S. This genetic disease is passed on
Sickle cell: One of the first inherited diseases to be unraveled at the level of DNA was sickle-cell anemia which is defined as abnormal, crescent-shaped red blood cells that results from a single change in the amino acid sequence of the cell's hemoglobin, which causes the cell to contort, especially under low-oxygen conditions. (medical dictionary, 2017) Also, called drepanocyte, meniscocyte. Also, this blood disorder mostly affects Africans and natives of the Mediterranean region are those who are affected by malaria. A single mutation in the gene for the blood protein hemoglobin can affect its ability to transport oxygen around the body. People who inherit two copies of the same mutation, one from each parent, have severe symptoms.
People may not know they have hemochromatosis since in the early stages they may not have any symptoms. In this stage, the only way the disorder can be detected is through routine blood tests and the doctor noticing elevated iron levels in the blood. Usually, the first and most common symptoms of hemochromatosis is joint pain and fatigue, but these are symptoms which occur in several other diseases and disorders, so the diagnosis is frequently held up or even overlooked. “Pain in the knuckles of the pointer and middle finger, collectively called ‘The Iron Fist,’ is the only sign or symptom specific to hemochromatosis. However, not everyone with HHC experiences the Iron Fist” (“WHAT IS HEMOCHROMATOSIS?” n.d.).
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.
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
A genetic disorder is an a disease or condition caused by one or more abnormalities in the genome. Genetic disorders are an inherited medical condition, which are caused by a DNA abnormality. “Noonan Syndrome is a genetic disorder, it prevents normal development in different parts of the body (Mayo, 2016).” There are several different abnormalities caused by Noonan Syndrome that can affect people. Noonan Syndrome is a genetic disorder which a means it can be passed through parents to their children.
Genetic diseases are the results of changes in an individual's DNA, usually inherited. An example of a fatal genetic disease is cystic fibrosis (also known as CF). This is the most common fatal genetic disease in the United States, over 30,000 people in the U.S. have cystic fibrosis and about 1,000 people are diagnosed each year. This disease attacks many different parts of the body, but the most affected area is the lungs. Cystic Fibrosis is genetic, has obvious symptoms, and is deadly.
My Genetic Disease is Sickle-Cell disease. It is located on the Chromosome 11 at position 15.5 on the short arm. To get this genetic disease, your mom and dad have to be a carrier of the disease. This is also a mutation P (point mutation), which means there was a deletion inside the gene. This disease makes your red blood cells not be a normal shape. The red blood cell looks like a sickle from a protein called hemoglobin that carries oxygen. This makes it harder for your red blood cells to go through the veins of your body, which could cause health problems like stroke and heart attacks.
You can ask your doctor to write a physician report that includes a definitive diagnosis of hemolytic anemia. A simple statement isn’t enough to be persuasive. This report must state that you’ve had the appropriate lab tests, and those tests provide absolute proof that you have this type of hematological disorder. If the doctor isn’t able to use a lab test, another type of acceptable proof must back up the diagnosis stated in the report.
1. Hemochromatosis is a recessive inherited disorder that affects the body’s mechanism of metabolizing it’s iron resources. Lack of proper metabolizing resources can result in excess iron depositions in the body; leading to infertility, psychiatric disorders as well as various heart diseases, and even death if left untreated. This disease is said to have originated from the Vikings in Northern Europe, and is quite common among those of Western European descent. Similar to hemochromatosis, cystic fibrosis is also a recessive hereditary disease, caused by a mutation in the CFTR gene that affects the movement of chloride ions between cells. As a result, the secretion of sweat, digestive juices and mucus are affected as well. Likewise, this disease
The term genetic disorders describe problems caused in the genes by abnormalities of the genome (Genetic). These genetic disorders are typically rare and are passed on from parent to offspring by recessive or dominant alleles, commonly known as gene types. One of these many rare disorders is Down syndrome. There are three types of Down syndrome: trisomy 21, translocation Down syndrome, and mosaic Down syndrome. Down syndrome is an incurable congenital disorder arising from a chromosomal defect, which results in a multitude of physical and cognitive symptoms (Missing).
Due to frequent blood transfusions, people with thalassaemia can be overloaded with iron in their bodies. An excess of iron can result in damage to the heart, liver, and endocrine system so almost all patients with β-thalassaemia major or intermedia require enough iron chelation therapy to prevent the accumulation of potentially lethal iron levels. Other symptoms of the disease include slow growth rates, an enlarged spleen due to the excessive removal of damaged erythrocytes, and an increased risk of infection. Bone deformities may also be a sign as thalassaemia causes an expansion of the bone marrow, making bones brittle and more prone to breaking. More severe forms of the disease are accompanied by mental retardation, dismorphia or premature death.
There are many types of genetic conditions. Genetic mutations cause these genetic conditions. Genetic mutations can occur if there is an extra chromosome in a gene, if there is a missing chromosome, or even if there is a distorted chromosome. Some genetic conditions include autism, food allergies, and Down syndrome.
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.