Hemophilia is a disease that causes the weakening of a patient’s ability to make blood clots. It, therefore, causes the patient to bleed for more extended periods of time. The disease comes as a result of the blood lacking enough clotting factor which is a protein that controls bleeding. Usually, there are two types of hemophilia, the common one being Hemophilia A which is caused by having reduced levels of the factor VIII (8), and the less diagnosed being hemophilia B as factor IX deficiency (Franchini & Mannucci, 2018). The two types of hemophilia appear to have very similar signs and symptoms, but they are usually caused by different genes mutations.
For a hemophilic patient, bleeding mostly occurs internally generally in the joints or muscles. The bleeding episodes may occur spontaneously, with no apparent cause or as a result of recent trauma or injury. A patient with a suspected case of hemophilia will normally appear to have bleeding injuries or swelling off the joints probably after an injury. The prolonged bleeding usually depends on the severity of the disease on a patient with a severe case causing spontaneous bleeding. A mild case of hemophilia would portray the excessive bleeding in a serious injury or a surgery. One noticeable result after medical assessment would be that all the vital signs seem to be normal with no signs of fever and loss of appetite. The patient however may have many bruises. Enquiry of the patient’s family history of blood disorders is necessary to know its heredity. Delayed treatment of the internal bleeds may lead to pain and swelling and eventually result in permanent damages which include chronic pain, arthritis and joint injury which need surgery.
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Hemophilia is a genetic disease. This means that it is inherited from parents. Hemophilia is caused by the mutation of the protein genes therefore making the disease primarily affected by the genetics of a family lineage. DNA in human cells is organized into chromosomes in which humans have forty-six. Two of them called X and Y are used to determine sex. A female has two X chromosomes while the male has one X chromosome and one Y chromosome. The inherited disease appears to have an X-linked pattern thus revealing that the faulty gene that causes it is in the X chromosome (Sholzberg, 2018). Since males have one copy of the X chromosomes, this means that it only takes a single mutation to cause hemophilia. A female has two of the X chromosomes; therefore, there needs to be a mutation in both to cause the disorder. In a case where the female has one healthy and the other mutated chromosomes, she is known as a carrier. A carrier may experience hemophilia symptoms but not the severe form of the disease; she can, however, pass the gene onto her children. Male children born from mothers who are carriers have a 50% chance of being hemophilic (Buckley et al., 2018). Girls, however, would require for them to inherit mutated chromosomes from both parents to hemophilic which is highly unlikely. The disease is therefore seen in more males than females. The nature of hemophilia, therefore, paves way for the genetics factor to put a major contribution on acquiring the disease.
As part of diagnosis, a medical practitioner would need to ensure that a patient exhibiting the symptoms of hemophilia comes from a lineage of hemophilia carriers and those sick from the disease. In many cases the disease may appear to come out of nowhere since there is no known family history of hemophilia. The reasons for this could, however, be that there is a forgotten ancestry of hemophilic individuals that the current generation of parents and children may not know. Another reason would be that the gene for hemophilia may have been passed down by the female carriers for generations and is only noticed when a boy acquires the gene. In the rare cases where the hemophilia does not appear to be hereditary, it may occur through a spontaneous gene mutation. This may occur when the gene becomes permanently faulty and does not adhere to its functionality.
A hemophilic individual will tend to have nosebleeds that will not stop, painful and swollen joints, unusual number and location of bruises, and blood in urine. A patient with hemophilia will generally appear with easy bruising. This occurs through heterogenous mutations which lead to the dysfunctionality of the factor VIII protein as in hemophilia A (Huether &McCance, 2017). The changes made to the protein sequence are the cause for the structural and functional impairment thus preventing the normal blood clotting. The primary areas of the factor VIII production are thought to be at the vascular endothelium which is in the liver and the reticuloendothelial system. In a case where the vascular endothelium is injured, the hemostatic process starts the coagulation cascade to restore vascular integrity to prevent more bleed. The platelet activation occurs at the site of vascular rupture, therefore, causing the promulgation of clotting factors and formation of fibrin. This results in a platelet-fibrin plug that prevents further bleeding. The factor VIII provides the necessary boost of thrombin generation and promulgation of fibrin formation to stop bleeding. Bleeding from a case of hemophilia results from defective fibrin stabilization and fibrin generation failing secondary hemostasis. The insufficient thrombin in the coagulation cascade, therefore, leads to the fibrin scarcity.
References
Buckley, B., Dreyfus, J., Prasad, M., Gayle, J., Kendter, J., & Hall, E. (2018). Burden of illness and costs among paediatric haemophilia patients with and without central venous access devices treated in US hospitals. Haemophilia .
Franchini, M., & Mannucci, P. M. (2018). Haemophilia B is clinically less severe than haemophilia A:
Huether, S. E., & McCance, K. L. (2017). Understanding pathophysiology (6th ed.). St. Louis, MO: Mosby.further evidence. Blood Transfusion , 16 (2), 121.
Sholzberg, M. (2018). Haemophilia commentary: The utility of BAT s. Haemophilia .
