Genetic Disorder; Hemolysis Essay
Abstract
A genetic disorder refers to a problem which is caused by an abnormality that is experienced in the genome. Most of these abnormalities are not common. These cases are rare as many generations can go without experiencing them. The disorder may be passed from one generation of parents to the other through the genes while others may be passed on through hereditary. The other causes, which are the most common, are the changes that take place in the DNA. These cases cannot be passed down to several generations except if it takes place in the line of the germ. Genetic disorders come in numerous forms. Some very common examples of genetic disorders include hemophilia and sickle cell anaemia. This paper will look at haemophilia and the impacts that it has on the individuals. In most cases, we come across people whom even after a small cut, they bled profusely. It is also the most common genetic disorder that makes the blood lose its ability to clot when an injury occurs. The paper will explore the causes and some of the most common impacts that it has on the victims.
Keywords: hemophilia, genetic disorder, genetic mutation, hemolysis, blood clot, genetic inheritance.
Haemophilia is the most common genetic disorder and one that has proven to be easier to pass down from one generation to the other. This is a disorder that makes the body incapable of making the necessary blood clotting process in case there is an injury. The process of blood clotting refers to hemolysis, and it stops bleeding in case there is an injury that has taken place. Haemophilia victims are at risk of overbreeding in case there is a minor bruise or a simple injury. There is also an increase in the risk of the victims bleeding through their joints and also through the brain. There are cases that the victims only experience the mild case when they experience an accident or when they have had major surgery. Haemophilia victims who bleed through the joints can have permanent damage or a long-term headache as well as a seizure that can happen accidentally during their surgery sessions. There are also cases of headaches and reduced conscience levels after there is a large amount of blood loss (Peyvandi, 2016). Long-term headaches and unconsciousness due to the body’s inability to stop bleedings as it lacks the necessary blood clotting protein.
Haemophilia comes in two types. Haemophilia A and B. Haemophilia is the one that is quite rampant. It takes place due to the blood not having enough blood clotting proteins, also known as the factor VIII. As a result of the lack of the blood factor IX, haemophilia affects the many individuals as well. Unlike the other type of disorders that is due to genetically mutation, haemophilia is hereditary and is passed down from parent through the X- chromosomes. This takes place due to one of the genes becoming less functioning or completely coming non-functional. In rare cases, haemophilia may take place due to the genetically mutation that develops earlier in life. This occurs when there is an antibody that becomes resistant against any blood clotting process. There is also a recent research also shows the development of the other possible types. This is due to lack of enough factor XI. The acquired type of disorder is associated with the cases of cancer as well as the orders that becomes automatically immune. The other impairment that is associated with the disorder in pregnancy. One of the used prevention processes is the removal of the eggs from the human, making it fertile and then testing for the disorder in the embryo before putting it in the uterus for development. The most common treatment involves replacing the missing clotting factor. The process may take place when there is regular bleeding or in case there are regular bleeding episodes. The replacement of the clotting factor can be done at the hospital or at home for the home care patients. When there is an antibody that is developed against clotting, then the process of treating haemophilia becomes quite difficult. The number of people affected by the A type can be only one person in every five hundred to ten thousand male births.
Signs and symptoms
The signs and symptoms of hemophilia usually vary based on the level of the clotting factor of the victim. In case the level of the clotting factors is reduced to the mild state, the excessive bleedings are only experienced when there is a serious surgery, or in case there is a shocking trauma on the patient. However, in case the deficiency is too much, there are cases of spontaneous bleeding. Some of the most common symptoms for the victims who suffered from the spontaneous bleeding include; unexplained cases of excess blood loss in case there is a minor injury or cut, including when there is a dental work on the patient, presence of deep and wide bruise. In case it is on the younger patients, there is unexpected excessive bleeding from the vaccinations. The other cases include swelling processes or tightness that is experienced in the joints. There are also those who experience nose bleeding that is not instigated and irritability in the patient that are not explained. One of the most concerning symptoms is the brain bleeding that is experienced in the patients. This can take place through a simple head clash for the people who are experiencing severe cases of haemophilia. Being rare, it is the most concerning complication. They also have cases of seizure. Most of the symptoms of brain bleeding are unbearable for the patients. It is also characterized by long periods of a headache. The families that have the history of haemophilia are always asked to undergo several cases of testing to examine the disease before it becomes a reality.
Causes of haemophilia
Under normal conditions, the human body should have the ability to pull blood together to form a blood clot in the place where the bleeding has occurred. This process is encouraged by the blood properties, including the presence of the blood clotting protein. Haemophilia is a condition where the body has less protein. Even though haemophilic genes are passed from one generation to the other, there are those that result of genetically mutations.
Inheritance of haemophilia
Haemorhilia victims have a certain type of fault in their X chromosomes. The sex chromosomes in human beings can be characterized into X and Y. The female has two X chromosomes while the male has the X and Y chromosomes. For a female child to be born, the child must get the Y chromosomes from the man and an X from the mother. The female child inherits both X chromosomes from the parents. This means that it exists in the genes of the mother. When the defects re-experienced in the females, it is due to the fact that they are careers. Hence, they will not experience any signs of symptoms.
Treatment and management
One of the most common methods of preventing haemolysis is testing for an egg embryo before allowing for fertilization; an ovum is removed so that here is attest performed to determine if there is the presence of the gene. The egg is then put back to the uterus in case it has no haemophilic genes. In the management of hemophilia, the patients can have the clotting factor administered directly into their blood system (Kulkarni, (2018). This ensures that the victim does not experience excessive bleeding when they suffer a minor injury. Additionally, the test could be done before there is pregnancy so that the patient can be managed if they have genes for hemophilia.
In conclusion, the abnormalities that affect the individuals as a result of the modifications in the genes are some of the most common problems for the victims. These abnormalities can cause several problems to the victims. Most of the genetic disorders are rare to find. Some of the most common examples of genetic disorders include sickle cell diseases, albinism, hemophilia among the others. Haemophilia is the most common genetic disorder that affects people. It is a condition where the victims experience excessive bleeding because they do not have the blood clotting factors. Haemophilia makes the body deficient of so of the most vital proteins that are necessary for the process of haemolysis. The condition is hereditary even though there are few cases that come as a result of genetic mutations. Some of the signs and symptoms include excessive bleeding from minor cuts or bruises. The infant patients also experience excessive bleeding when they are being vaccinated. Haemophilia patients suffer from internal bleeding and in some cases experience brain bleeding. The genes that cause haemophilia can only come from the mothers who are carriers of the condition as they themselves cannot experience the symptoms and signs. Hence, haemophilia mostly affects the males who gets the X chromosomes from the mother. It is very rare to have the females experience extreme signs and symptom of hemophilia. In case of a suspicion of the presence of hemophilia in a family, it is advised that the victims go for a check so that they can get help before the condition is passed down the line.
References
Kulkarni, R. (2018). Use of telehealth in the delivery of comprehensive care for patients with haemophilia and other inherited bleeding disorders. Haemophilia, 24(1), 33-42.
Peyvandi, F., Jayandharan, G., Chandy, M., Srivastava, A., Nakaya, S. M., Johnson, M. J., & Menegatti, M. (2016). Genetic diagnosis of haemophilia and other inherited bleeding disorders. Haemophilia, 12(s3), 82-89.