Abstract
Hemophilia is a genetic condition that is traceable in generations. The disease is usually linked to the excessive bleeding of the patient at a point where the blood vessel is damaged. A lot of research on the disease has been carried out trying to define the origin of the disease and offer extensive support to the solution of the condition. Over time, the disease has attracted extensive attention as the cases of the disease increase. It has not been easy to control the disease since the condition has been overwhelmingly disturbing to the patients as well as the family members of the patient. They do not understand the best solution to undertake to ensure proper treatment or management of the disease. However, the disorder is usually common among males following the passion of two X-chromosomes which are the hosts to the F8 gene. Under the proper management of the disease and counseling of the patients, the disease can be countered.
Introduction
Hemophilia classic is also referred to as hemophilic, and it is usually hereditary. The conditions make it difficult for the blood to clot, which is a major step in stopping bleeding in case a blood vessel is destroyed. Being genetic in nature, the condition is usually linked to the recessive X chromosome. The disease is usually common among the boys since they possess two X chromosomes. To the girls, they are usually carriers since they possess one X chromosome, which makes it hard for them to have the disease. The disease has undergone a major process of evolution through the discovery of new things regarding the disease that has made it challenging to deal with the condition. However, methods to contain the disease have been invented, and the disease has become easy to monitor and control.
In the ancient times, people had different knowledge regarding the hemophilia disease. It was evident that the bleeding technique was different from one person to the other. The people had minimal knowledge on how the blood clots and they could hardly relate the clotting to a disease. The disease was discussed for the first time in the 10th century by Abulcasis, who never gave detailed or reliable information. However, much of the scientific analysis of the disease began in the 19th century and was started by Dr. John Conrad in1803 (Berntorp, 2013).
Dr. Conrad described the disease as a condition that existed in certain families, and he referred to the affected males as “bleeders”. He identified the disease as hereditary with the males being the main victims. His study acted as a guide to Freidrich Hopff, who did his scientific analysis in 1828 without giving a major improvement on the knowledge regarding the disease. It was during the Second World War that it was discovered that the disease was as a result of the presence of protein in the blood (Berntorp, 2013).
Hemophilia was also known to have originated from the royal family since the hemophilia gene had been passed from Queen Victoria to the governing families in Russia, Spain, as well as Germany. The disease was as a result of spontaneous mutation as his son, and two daughters were carriers. At the marriage of one of the daughters to a prince in Russia in 1894, the child that was born in 1904 by the couple was diagnosed with Hemophilia (Berntorp, 2013). Therefore, it was dawning that the disease was genetic.
Upon discovery that the human blood could be classified into groups of types in around 1900 further analysis of the disease was being done. At the time, blood transfusion had become exceedingly easy to undertake and succeeded in various instances of the trial. In 1930 the medical professionals had knowledge on the categorization of the various blood components (Berntorp, 2013).
In the early 1960s, further discovery was made by Dr. Judith Graham Pool regarding the freezing procedure and thawing plasma to cryoprecipitate. It was the most successful method of stopping hemophilia. However, the best and the most reliable method of dealing with hemophilia was factor concentrates. The new method would help patient to manage hemophilia away from the hospital (Berntorp, 2013). Initially, the factor concentrates were made out of human blood but currently they are manufactured by the recombinant technology.
Phenotypic features of Classic Hemophilia
The symptoms of hemophilia A or classic hemophilia depend on with the severity. The main symptoms are the bleeds, which are well known as external and internal bleeding episodes. The patients with severe hemophilia experience frequent bleeds but the patients with mild hemophilia experience minor bleeding symptoms unless they are exposed to surgery or extensive trauma (Goodeve et al, 2012). On the other hand, moderate hemophilia may have different symptoms, which show up along a spectrum that is amidst severe and mild status.
If during normal birth forceps are used, the signs of hemophilia may be as a result of excessive head bruising as well as intracranial hemorrhage. The other sign may be excessive bleeding from a circumcision wound or a venepuncture (Van Den Berg et al, 2007). Also, for patients with mild or moderate hemophilia, a trauma that may appear later is likely to cause excessive bleeding. Also, the hemophilic conditions may lead to excessive bleeding from a minor injuries (Goodeve et al, 2012).
Also, there may be instances of spontaneous bleeding which are not caused by any action or cut in the body. At some point, bleeding may occur in any part of the body, and it should raise a concern to the patient. Superficial bleeding as a result of abrasions and shallow lacerations is also likely to occur for a prolonged period without a definite cause (Mulliez et al, 2014).
In addition, the patient is likely to experience extensive pains in the body. At the severity of the condition, the patient is likely to experience a severe headache which may also be experienced at the mild stages of the condition (Van Den Berg et al, 2007). The headache may be prolonged for an exceedingly long period. At some point, the headache may be as a result of the excessive bleeding that the patient is likely to experience at the severity of the condition. Also, there may be cases of the patient vomiting for a long time with bits of repetition (Goodeve et al, 2012). Following the discomfort of the body, the patient may experience extensive fatigue.
However, the symptoms would indicate the severity of the disease when bleeding occurs in joints, muscles, the brain or the digestive tract. At such a point, the treatment of the management of the condition must be sort immediately since it may lead to damage to major organs and cause sudden death for the patient (Mulliez et al, 2014). The condition of the disease would have become severe at the point where the mild symptoms were ignored and the necessary conditions unattended.
Genetics of the Classic Hemophilia
It is well known that the classic hemophilia is caused by a genetic problem. The genetic disorder usually results from the lack of a clotting protein, which does not offer the body the necessary protection against excessive bleeding. A proper understanding of the genetic nature of the disease would come with proper knowledge on the X and Y chromosomes and how they relate to the disease (Au et al, 2015).
The genetic element of the disease is usually on the X chromosome. As such, the risk of acquiring the disease is usually connected to the recessive nature of the gene. During birth, a female child acquires two X chromosomes from the parents, each from one of the parents. On the other hand, the male child acquires one X chromosome from the mother and Y chromosome form the father (Van Den Berg et al, 2007).
The F8 gene is usually responsible for the disease. The gene orders the body to produce a protein, which is mainly known as the coagulation factor VIII (Au et al, 2015). It is exceedingly important when control bleeding in the body of a patient. It repairs and heals the blood vessels which have been destroyed as well as prevents excessive bleeding of the patient.
In a situation where the boy acquires an X chromosome with the hemophilia condition from the mother, he will suffer the condition. It is an indication that the disease cannot be transferred from the male parent to the male children. At this point, the male child is safe in relation to the genetic favor given by the father.
On the other hand, since the girls possess two X chromosomes, at a point where they acquire the hemophilia condition from the female parent it will be countered by an uninfected X chromosome from the male parent thus they will not be hemophilic. Such a girl has chances of passing the gene to her children. As such, hemophilia may occur among girls but in rare circumstances (Au et al, 2015). However, based on the genetic analysis defined for the disease, there are numerous chances that the boy child is usually at the risk of being hemophilic.
Diagnosis of the Classic Hemophilia
The diagnostic process of hemophilia classic is exceedingly involving with a number of procedures being put in place. The procedure must be exhaustive to give the most reliable results. As a medical procedure, the diagnostic process of hemophilia should not be ignored of its influence on the future of the individual to whom the test is being carried out (Van Den Berg et al, 2007).
The first and most crucial diagnostic procedure of the disease or the condition is on the patient and family history. It is evident that the disease is hereditary and may be spread from one individual to the family to another. Since the disease is linked to genetic conditions, the children should be examined closely o ensure they do not suffer from the disease. In the case, the patients are tested for the F8 gene and if there is some deficiency in the disease, the individual is declared positive to the disease (de Brasi et al, 2014).
The first test may be carried out during the postnatal clinics. The condition of testing during the postnatal clinic is helpful in saving the infant as well as the mother from the excessive bleeding during birth. It saves the two parties from the dangers of the extended diseases (Mulliez et al, 2014).
The other diagnostic evaluation procedure is the laboratory testing. It usually involves the tests of the blood on the ability to produce the F8 gene for easy production of protein helpful in the blood clotting process. One of such test in the laboratory procedures is the screening test. It helps in identifying the presence of hemophilia classic in the body of the patient before he shows tangible or evident symptoms (Goodeve et al, 2012). In the test, a sample of blood will be measured on the amount of factor VIII in the blood. The FVIII activity level will also be tested in the process with a major aim of understanding the functionality of the protein that controls the blood clotting. The procedure is unique for identifying whether the factor VIII has increased or decreased in the blood (de Brasi et al, 2014).
Also, genetic testing would be carried out in the lab. A clinical geneticist would carry out the procedure through the lab results and the information gathered on the history of the family. At this point, the individual is supposed to confirm the presence of the causative F8 for the hemophilia classic. The procedure may be followed by the determination of the carrier status (Van Den Berg et al, 2007). The necessary genetic procedures must be carried out to ensure the patient has been examined against the probability of being a carrier of the hemophilic gene.
Important genetic testing and counseling considerations for Classic Hemophilia
Over time, genetic testing has advanced to the inclusion of excessive or extensive specialty for rare diseases. The testing procedure has been highly useful in diagnosing the newborn of the inherited diseases through screening of the infants. It is a procedure that is usually carried out in the hospitals before the child is born. The prenatal tests carried out can easily detect the carrier status of a baby, which may not be detected during the normal screening of the patients (O'Shea et al, 2012).
Also, for genetic testing methodologies, Post-millennium genetic technologies have been used in the identification of the patients who may be suffering from hemophilia A. If the direct genetic testing procedure is to be carried out, the laboratory has to be keen on the consideration of certain genetic variants, which are likely to contribute to a certain condition related to hemophilic classic. An indirect test may be carried out in the form of comparison for DNA markers that are likely to influence the genetic condition of a patient (de Brasi et al, 2014).
Although new technologies have been introduced to test and carry out the diagnostic procedure of the disease, the indirect testing procedure must be considered highly important and carried out with the perfect respect and consideration. For example, the classical indirect approach known as the single-strand conformation polymorphism as well as the heteroduplex analysis procedures have been used though they are not in existence in the developed parts of the world (de Brasi et al, 2014).
The procedure of making the patient understand why he is suffering from a certain disorder is exceedingly paramount and usually difficult. The genetic counselors that are usually well trained to assist people in dealing with the genetic disorders are highly important to the hemophilia patients. The genetic experts are usually useful among the hemophilia classic patients for the interpretation of the family and medical histories. They would carry out tests on an individual to determine the chances of the disease occurring on the individual (O'Shea et al, 2012). At this point, the counseling procedure is highly paramount as it helps individuals to remain knowledgeable of their condition and how to handle the condition if it is part of them.
The counselor will take the hemophilia classic patient through the procedure and offer him the knowledge about the inheritance of the disease. He will also be helpful to the patient in understanding why certain test sand being carried out but with the aim of making the patient understand why he is suffering the condition (O'Shea et al, 2012).
The genetic counseling procedure is highly recommended to the individuals who may have been linked to the historical condition of hemophilia classic. The counselor will be helpful in understanding the current condition and offering the necessary insight on how to deal with the condition (O'Shea et al, 2012).
The genetic counselor is highly skilled in offering emotional support to the patient. They understand the psychological torture that one is likely to experience at the time they suffer the disease, and they require the necessary support to ensure they do not develop further complications out of psychological effects of the disease (Ludlam et al, 2005).
In this case, the mental status of the patient is very important. It is highly useful to have the patients experience exclusive peace despite being diagnosed with the certain condition. However, that is not always the case for patients with such conditions as hemophilia classic. They deserve proper treatment and counseling to ensure their situation does not get worse instead of being healed in the process.
Although the genetic counselor has been granted the duty to test and examine the patient, he cannot make any decision on behalf of the patient. He may only extend moral support, which cannot or would not be matched with a decision on behalf of the patient. The part of the medical decision is left to the patient and he should execute as it seems interesting or appealing to him (Ludlam et al, 2005).
Management and treatment of the person affected by the Classic Hemophilia
Although the Hemophilia classic condition may seem exceedingly disturbing and disrupting to normal life, it is manageable and treatable. However, a number of treatment procedures may be employed to ensure the disease has been countered and handled accordingly. The management and treatment procedures are extremely interesting and involving and should be respected by the patient as well as the physician (Srivastava et al, 2012).
The most common procedures in the management and treatment of the disease are prophylaxis, proper management of the bleeding periods, factor VIII inhibitors treatment, as well as treatment and rehabilitation of hemophilia synovitis. Additionally, the factor replacement product, as well as other medications including pain killers, has been required and used widely (Leissinger et al, 2013).
The hemophilia patients should be treated in comprehensive hemophilia care center. The centers are fully equipped with all the professionals who may be required in the treatment procedures available. The health professionals are available to offer the necessary support and influence the patients to good health (Srivastava et al, 2012). They offer the medical procedures that need to be followed by exposing the patients to the necessary professionalism and ensuring they achieve the necessary or the vital medical support. The patients who are treated in comprehensive care clinics have had access to medical care (Leissinger et al, 2013). There have been minimal cases of death for the patients with most of them giving outstanding outcome upon treatment.
In the management of the FVIII activity levels, dose calculations may become exceedingly paramount. The medical practitioners aim at achieving an activity level of between 30% and 40 % for mild conditions and a minimum of 50% for severe bleeding conditions (Srivastava et al, 2012). During major surgeries, which may result in severe bleeding, the FVIII activity level should be maintained at between 80% and 100% (Leissinger et al, 2013). In a case of excessive bleeding, the patient should be hospitalized to be monitored closely by the medical practitioners.
At a point where the patients therapy for bleeding cases, prophylaxis and intermittent may be highly useful. Prophylaxis is common with the reduction of the succession of damage to areas infected with the bleeding conditions. However, the procedure would work well if it was supplemented with the on-demand treatment of a patient, which may lead to reduced bleeding levels and avoid deterioration of conditions as it pushes for quality living for the patient (Ludlam et al, 2005).
In prophylaxis, dosing has been designed to ensure the trough levels are more than 2%. It calls for the patient to have the FVIII administered to him three times per week. In this case, the individualized therapy becomes useful for the definition of success. However, the condition of the patients with the FVIII inhibitors may be exceedingly challenging. The bleeding instances for the patients with minimal inhibitors can be countered with the use or application of strong doses of factor VIII.
Conclusion
Hemophilia classic being a genetic disorder is an exceptionally challenging disease. As it has evolved over time, knowledge has been achieved on the best methods of treating the disease. Its condition has improved following the identification of the most outstanding ways of treating it and managing the patients. The genetic considerations have been made continuously to ensure the disease has been monitored and managed based on the conditions f the patients. Treatment methods have been assured, and the necessary procedures to deal with the health conditions have been brought forth over time.
References
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