Hemophilia is a genetic disease characterized by an impaired blood clotting process (Reference, 2019). In this case, people suffering from the disorder have prolonged bleeding. In some cases, bleeding can also happen in the absence of an injury or even after minor trauma. In severe complications, bleeding can happen in the internal body organs and joints. There are two types of hemophilia: hemophilia A and B. The difference between the two types of hemophilia is the missing factor. Type is characterized by factor VIII shortage while type factor IX shortage. Both hemophilia A and B are passed through the genes at birth.
Hemophilia is prevalent in males than in females due to its X-linked pattern of inheritance (Tantawy, 2010). The genetics associated with hemophilia have implications for disease counseling, preconception testing, inhibitor development as well as disease severity. In severe cases of hemophilia, the person has non-full F 8 mutations and the thrombophilic genes are heterozygous. In this case, severe hemophilia may impact the missense mutations responsible for the milder clinical manifestation of hemophilia.
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Treatment therapies of hemophilia include plasma-derived factor as well as recombinant factor concentrates (“Treatment of Hemophilia | CDC,” 2019). The plasma-derived factor concentrates entail collecting plasma from many people and subjecting it to several processes to obtain the clotting factors (“WFH eLearning Platform - Online CFC Registry,” 2019). These clotting factors freeze-dried, tested as well as treated to kill any potential viruses. The concentrates are then packaged for use. The recombinant factor concentrates entails engineering of DNA genetically. Once the commercially prepared concentrates are ready, they are treated to inactivate or remove blood-borne viruses. Recombinant factors IX and VIII have no albumin or plasma. In this case, the two recombinant factors cannot spread blood-borne viruses.
References
WFH eLearning Platform - Online CFC Registry. (2019). Retrieved 12 October 2019, from http://elearning.wfh.org/resource/online-cfc-registry/
Tantawy, A. (2010). Molecular genetics of hemophilia A: Clinical perspectives. Egyptian Journal Of Medical Human Genetics , 11 (2), 105-114. doi: 10.1016/j.ejmhg.2010.10.005
Treatment of Hemophilia | CDC. (2019). Retrieved 12 October 2019, from https://www.cdc.gov/ncbddd/hemophilia/treatment.html
Reference, G. (2019). Hemophilia. Retrieved 12 October 2019, from https://ghr.nlm.nih.gov/condition/hemophilia
