Their Hfe Gene Copies And A Mutation example essay topic

Genetic is a disorder, which causes iron build up over time. Usually an adult has about 4 grams of iron in their body but with this disorder the amount of iron in the body is much higher, with the total amount of iron in the body reaching up to 20 to 40 grams if untreated. In Australia, affects 1 in 200-300 people but it is most common in Australians whose ancestry is from Northern Europe or the United Kingdom. If is left untreated, it leads to conditions such as: SS Cirrhosis of the liver Cardiomyopathy SS Diabetes To prevent these problems from developing, early diagnosis and treatment is needed. The treatment for this disorder is done by regularly extracting blood, from the same main vein, as the one that's used for when a person donates blood. By doing this regularly, it reduces the high levels of iron in the blood so that it doesn't get stored in various organs.

People who are affected by may show no symptoms at all. The symptoms of this disorder are more likely to develop in men aged between 40 and 60 years old and at a later age for women, although the disorder can be diagnosed much earlier. For this disorder, symptoms vary according to the organs involved. In the early years there may be no symptoms at all except for a healthy skin colouring that seems like a tan. Although early symptoms that occur in some people are: SS Weaknesses Weight Losses Lack of interest or concern Sexual drive Pain in the arms Muscle Tenderness SS Cramps in the legs Symptoms may occur earlier in men though because women lose blood during menstruation and childbirth causing the iron levels in the body to reduce. THE CAUSES OF HEREDITARY HAEMOCHROMATOSIS The gene most commonly involved in hereditary is called the HFE gene.

On the short arm of chromosome number 6 is where this gene is located. The HFE gene codes the protein that regulates iron absorption. When the HFE gene is faulty the message from the gene is also faulty causing the iron storage that regulates itself to fail. Two mutations, called C 282 Y and H 63 D, have been identified in the HFE gene.

It appears to cause most of the cases of hereditary. Being born with two faulty HFE gene copies does not actually have to mean that a person will definitely develop HH, it just means that they are more easily affected by hereditary then others. There are also other triggering factors that are important in the development of HH and also how easily it's affected, are different for males and females. Also by having a H 63 D mutation in both copies of their HFE gene rarely causes a person to develop HH. There is also a difference in men and women how this disorder can affect them. It is estimated that 90% males and 50-70% females born with the C 282 Y mutation in both copies of the HFE gene, will develop HH at some time during their life.

About 90% of people with symptoms of HH have the mutation called C 282 Y in both copies of their HFE gene. Although only 2% of people with HH have a C 282 Y mutation in one of their HFE gene copies and a mutation called H 63 D in their other HFE gene copy. When a person is born with these two faults in their HFE gene copies, less than 1% will develop the symptoms of hereditary during their lifetime. To end these statistics, about 10% of people with symptoms don't have either of these mutations in their HFE gene. GENETIC CARRIERS FOR HH Everyone has two copies of the iron storage-regulating gene (the HFE gene) in their body's cells. People who have a correct copy of the gene and a mutated copy are called 'carriers' of the mutated gene for HH (genetic carriers).

They would hardly show any symptoms, or have only a very slight form of the disease since they have one correct copy of the gene, which usually regulates the amount of iron stored in the body. Triggering factors such as having diabetes or being an alcoholic, for genetic carriers can develop the disease. THE PATTERN OF INHERITANCE OF HEREDITARY HAEMOCHROMATOSIS IN FAMILIES HH being a recessive genetic disorder follows a pattern of inheritance in families. In Figures 1 and 2, the little 'r' and the correct copy by using the big 'R', represent the mutated iron storage regulation gene.

There are four different ways for the combination of genes to be able to be passed from parents to children. Shown in Figure 1, is if a couple who are both carriers of the mutated gene have a baby, then there is a 25% chance in every pregnancy, that they " ll have a baby who is likely to develop HH as an adult. In Figure 2, it's a bit different. If only one parent is a carrier of the mutated gene, there is a 50% chance that their children will be genetic carriers. There isn't any chance that their children will inherit two faulty copies of the mutation and be influenced later on in life of HH FIGURE 1 FIGURE 2 WHAT CAN BE DONE ABOUT HAEMOCHROMATOSIS?

Once the diagnosis of is made, organ damage can be prevented by removal of iron through having repeated removal of blood from the body's main vein. This is the standard way of removing excess iron from the body. The earlier in the course of the disease that this procedure is done, the better it is for later on. Before developing liver damage, people who are diagnosed with and who have blood removed regularly, have a normal life expectancy. Although, if a person with already has very bad liver damage, they have a shortened life expectancy and a high risk of developing cancer of the liver.

The disadvantages of this procedure are that people don't like the thought of regularly having blood taken to keep iron levels at the normal body's level and for now there's no other way of minimizing the body's iron levels. Therefore making it a disease that people think that having too much iron will do nothing to their body because the symptoms can show no signs at all and iron builds up over time, so people who have the disease may not realise they have it until it's too late. The advantages of this procedure are that if it's detected early, regularly having blood taken can actually start slow the iron level build up having less later on in life. Also if blood is regularly removed, there's a normal life expectancy unlike leaving it until it builds up too much and causes organ damages.

THE SOCIAL AND ETHICAL ISSUES The shared nature and ownership of genetic information-The confidentiality and privacy of the person being tested needs to be protected. The results of a parental diagnostic genetic test belong to the parents. The testing of an adult for a disorder, which could develop later on in their life, only that person has the right to know the genetic information about themselves. The results should not be released to anybody else without written consent.

People that may have an interest are family members that the person wishes that the information be released to them, insurance companies and employers. Limitations of genetic testing-Genetic technology is a new and ever changing area of science and medicine. In some cases, genetic tests provide people with reliable and accurate information on which they can make decisions about the information given and in some other cases it can sometimes not be possible to receive correct results. This can be because there's insufficient information about the exact fault in the gene being passed down in the family or the method of testing may be wrong. THE EVOLUTIONARY CONSEQUENCES Evolutionary consequences for this disease are that if this disease is detected early and blood is taken regularly, it can slow down the process of the mutated gene being passed down and lessen the chances of contracting the disease, as the iron levels aren't as high.

As they break down through the years passed down and also depending on the their mother or father's genes they " ve inherited.