Essay Example on Hemophilia A

Published: 2017-09-28
Essay Example on Hemophilia A
Type of paper:  Essay
Categories: History Medicine
Pages: 6
Wordcount: 1589 words
14 min read

What is hemophilia?

Hemophilia was first recognized by the Jews. They passed a law, which stated that if a woman had two sons and both died after the process of circumcision, then definitely the third son need not to pass the rite of passage. Thus, this is a clear indication that revealed women carried the genes associated with hemophilia and subsequently spread it to their sons (Raabe, 2008). Later, the hemophilia blood disorder was referred as the royal disease since Queen Victoria was identified as a carrier and spread the disease to many of her daughters. This was due to the fact that in the ancient days, royal families of different nations often intermarried. Thus, this caused the several arising generations of the royalty families to be affected by the disease. For instance, Alexei son of Alexandra, Nicholas and Czar of Russia. At a later time and date, their sons were affected by this disease (Konkle BA, 2016). There are different typed of hemophilia, which include; hemophilia A, hemophilia and hemophilia C. In this regard, the main aim of this essay is to critically evaluate and discuss hemophilia A, where focus will be drawn on the general history, genetics, clinical features, diagnosis, inheritance risk, and treatment/management of this disorder.

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History of Hemophilia

Hemophilia A, is also referred as factor VII (FVII) deficiency or the classic hemophilia. It is a genetic disorder that results after deficiency of factor VII, which is ideally a clotting protein. It is mainly passed from parents to their children. Research has shown that nearly a third of the cases of this disorder are essentially caused by spontaneous mutation, which is a changes in genes (Raabe, 2008). In addition, the reports from US centers for Disease Control and Prevention, cases of this disorder are recorded in roughly 1 in 5,000 births. Moreover, reports indicated that there are over 20,000 people living with hemophilia, particularly in the United States. The disorder is no exception to races and ethnic groups. As compared to hemophilia B, hemophilia A strikes four times in rate that its spread (Raabe, 2008).

What causes Hemophilia

Sex chromosomes mainly involves the X and Y chromosomes. X chromosome is the main gene identified to carry hemophilia disorder. The inheritance of the disorder basically depends on the gene X recessive nature. Thus, females inherit two X chromosomes, where each is from their parents, resulting to XX combination. On the other hand, males inherit X and Y chromosomes from their mother and father respectively. Hence, if a boy inherits X chromosome from his mother, definitely he will have hemophilia A disorder (Strmecki, Hudler, Benedik-Dolnicar, & Komel, 2013). Therefore, this means that fathers cannot be identified as the cause of the disorder to their sons. Scientifically, since the daughters have two X chromosomes in their gene combination, they have low chances of getting affected by the disorder because they will receive X chromosome from the side of their fathers, which clearly indicates absence of the disorder. In a case where a daughter inherits chromosome X, which has the gene of the disorder, she is referred to as a carrier. Thus, the disorder is rare in daughters. Consequently, for a female person who is a carrier, there are four likelihood of pregnancy outcomes. These include; a boy with hemophilia, boy without hemophilia, a girl who is a carrier and lastly a girl who is not a carrier (Strmecki, Hudler, Benedik-Dolnicar, & Komel, 2013).

Hemophilia symptoms

The disorder is mainly characterized by lack of factor VIII, which is a clotting factor. As a result, there is continued oozing after cases of injuries, surgery, tooth extractions, and regular bleeding before wounds heals. The level of factor VII is the main reason that explains age of the diagnosis and also the regularity of the bleeding activities (Kumar et al., 2016). Severe hemophilia is associated with deep muscle bleeding kind of a symptom. If one has been diagnosed with the disorder, especially for the individuals with serious hemophilia A, they experience at least 2-5 bleeding cases during early two years of their livelihood. For the people with average hemophilia, they experience impulsive bleeding, nonetheless, no delayed oozing after cases of minor trauma. Such individuals are diagnosed with the condition within 5-6 years of their age (Kumar et al., 2016).

On the other hand, people with mild hemophilia A rarely experience unprompted bleeding. If there is no pre and post-operative treatment, they can mild hemophilia can experience bleeding after a case of tooth extraction, where the regularity of bleeding is between one to ten years span. In addition, people with mild hemophilia A condition are not detected until after late time of their lives. It is also important to note that for the people with hemophilia A condition, bleeding often occurs during their childhood and puberty stage as compared to adulthood period. At least 10% of the females, specifically carriers stand a higher point of danger for bleeding, hence they are symptomatic carries. However, the symptoms that arises are always mild (Kumar et al., 2016).

Hemophilia A diagnosis

Hemophilia A diagnosis is mainly recognized to people who have low factor VIII type of clotting activity, especially on the availability of normal Willebrand factor (VWF) level. In addition, the molecular genetic testing of F8, which is a gene encoding factor VIII, can recognize the pathogenic variants for people close to 98% who have hemophilia A disorder (Konkle BA, 2016).

In addition, the most suitable place for the treatment of the people with hemophilia federally-funded hemophilia treatment centers (HTCs), which are spread in the country. HTC centers usually provides all-inclusive care from well-trained hematologist and other kind of professionals such as nurses, dentists and physical therapists. Identification of the medical history of the relatives of the patient is equally important to determine if they have been diagnosed with the disorder. In such a case, test that evaluate clotting time and individual’s capability to form clot can be done. Thus, a clotting factor test, which is commonly referred as an essay can be conducted in order to decide the type of hemophilia condition (Kumar et al., 2016).

Hemophilia treatment

As earlier mentioned, there are over 140 hemophilia treatment centers in the U.S, which are fully funded by the federal government. HTCs are vital for education, management facilitation, assessment and also genetic counselling. For the people with severe condition, training and administration of home infusion by parents and guardians can be effective (Konkle BA, 2016). Moreover, for the patients with mild condition or state, instant treatment involving administration of nasal desmopressin or factor VIII concentrate can be effective.

Hemophilia prevention

In order to maintain a severe condition among patient, infusion of factor VIII concentrate thrice a week can be effective. This is done in order to sustain factor VIII clotting effect at a range that is high so that at least 1% of bleeding and chronic joint disease can be eliminated(Konkle BA, 2016).

Bleeding and chronic joint diseases can be reduced if prophylactic treatment is done. Moreover, operational treatment of bleeding such as home therapy can be carried out(Konkle BA, 2016).


For the people with either severe or moderate hemophilia A, there should be assessment on a regular bases, which can be specifically after six to twelve at the nearest or recommended hemophilia treatment centers(Konkle BA, 2016). On the other hand, for the individuals with mild hemophilia, assessment can be done for a period of at least two to three years.

Agents/ Circumstances to avoid

Males who are at a risk of hemophilia A should be avoided until at a point where the condition is fully treated with intramuscular injections and factor VIII concentrate among others (Srivastava et al., 2012).

Evaluation of relatives at risk

For the purpose of identification and clarification of the type of the genetic status of the females who are at a risk of contracting hemophilia, there should be pregnancy management. This involves monitoring the types of carriers that they are classified on (Konkle BA, 2016).


People with hemophilia A mostly develop antibodies that are related to factor VIII. Such antibodies are referred as inhibitors. Thus, when the inhibitors destroy factor VIII until it reaches a point where it is ineffective. When such occurs, artificial clotting factor, Vlla should be administered (Srivastava et al., 2012).


Hemophilia was first discovered by the Jews. There are different types of hemophilia, which include; hemophilia A, B and C. Hemophilia A is caused by deficiency of factor VII. Girls are at a lower risk of inheriting the disorder from their parents as compared to the boys. Treatment of the manifestation, prevention of primary manifestation, prevention of secondary complications, and evaluation of relatives at risk are some of the disorder management strategies that can be used.


Konkle BA, e. (2016). Hemophilia A - PubMed - NCBI. Retrieved 15 August 2016, from

Kumar, S., Mishra, S., Panwar, A., Bhagchandani, D., Aneja, G., Verma, N., & Kumar, P. (2016). A clinical profile of hemophilia patients and assessment of their quality of life in Western Uttar Pradesh, India: An observational study. Medical Journal of Dr. D.Y. Patil University, 9(3), 320.

Raabe, M. (2008). Hemophilia. New York: Chelsea House.

Strmecki, L., Hudler, P., Benedik-Dolnicar, M., & Komel, R. (2013). De novo mutation in DMD gene in a patient with combined hemophilia A and Duchenne muscular dystrophy. Int J Hematol, 99(2), 184-187.

Srivastava, A., Brewer, A., Mauser-Bunschoten, E., Key, N., Kitchen, S., & Llinas, A. et al. (2012). Guidelines for the management of hemophilia. Hemophilia, 19(1), e1-e47.

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