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Hemophilia: Causes, Symptoms, and Treatment

Hemophilia is an inherited bleeding disorder. The leading cause of this disease is a mutation of the X chromosome, which disrupts blood coagulation processes. A thrombus does not form when the vessels are damaged, making it impossible to stop bleeding on time. Depending on which blood coagulation factors are impaired, there are three types of the disease. A deficiency of antihemophilic globulin characterizes Hemophilia A; it is diagnosed in 80% of all cases (Tiede et al., 2020). Type B hemophilia develops due to a lack of thromboplastin; this disease is diagnosed in 20% of incidents (Zaiden, 2020). Hemophilia C occurs due to a lack of plasma thromboplastin precursor.

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The first signs of pathology can be found in newborns. Therefore, prolonged bleeding from the umbilical cord and numerous subcutaneous hematomas will indicate the probability of confirming the diagnosis of hemophilia in a child. Excessive bleeding in infants at the time of teething becomes equally alarming (Kodsmann, 2020). With age, children may experience bleeding from the digestive tract caused by injury or medical manipulation. The most dangerous are nasopharynx and pharynx bleeding, which may lead to airway obstruction.

Treatment of hemophilia is primarily concerned with preventing and controlling bleeding and managing the complications associated with it. The type of therapy depends on the kind of illness and the severity of the patient’s condition. Therapeutic measures associated with the treatment of hemophilia are divided into two groups – prophylactic or symptomatic. In the first case, a severe form of pathology patient receives regular doses of clotting factor concentrates. Preference is given to the preventative type of treatment because it allows doctors to significantly increase the life expectancy of patients and improve its quality (Thornburg & Duncan, 2017). If symptoms include bleeding, treatment should be started immediately, even if diagnostic tests have not yet been completed.

References

Kodsmann, L. (2020). A timeline of hemophilia research. Innovative Research.

Tiede, A., Collins, P., Knoebl, P., Teitel, J., Kessler, C., Shima, M., Di Minno, G., d’Oiron, R., Salaj, P., Jiménez-Yuste, V., Huth-Kühne, A., & Giangrande, P. (2020). International recommendations on the diagnosis and treatment of acquired hemophilia A. Haematologica, 105(7), 1791–1801.

Thornburg, C. D., & Duncan, N. A. (2017). Treatment adherence in hemophilia. Patient preference and adherence, 11, 1677–1686.

Zaiden, R. A. (2020). Hemophilia B. Medscape.

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StudyCorgi. (2022, September 29). Hemophilia: Causes, Symptoms, and Treatment. Retrieved from https://studycorgi.com/hemophilia-causes-symptoms-and-treatment/

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StudyCorgi. "Hemophilia: Causes, Symptoms, and Treatment." September 29, 2022. https://studycorgi.com/hemophilia-causes-symptoms-and-treatment/.

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StudyCorgi. 2022. "Hemophilia: Causes, Symptoms, and Treatment." September 29, 2022. https://studycorgi.com/hemophilia-causes-symptoms-and-treatment/.

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StudyCorgi. (2022) 'Hemophilia: Causes, Symptoms, and Treatment'. 29 September.

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