Genetic Disorders Subject

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GeneticDisorders

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Formany years, genetic disorders have caused many abnormalities in thehuman development system. A lot has been going on behind the scenein various laboratories to address the cause of the problems. Forsometimes now, some breakthroughs have been realized by variousscientists who have spent most of their good time in labs.Consequently, all their fingers have finally pointed that theseabnormalities are as a result of the base sequence of genes. Thisresearch will, therefore, look at the major causes of hemophilia,types of hemophilia, and symptoms of hemophilia. Also, the researchwill suggest various treatments and preventive measures at large.

Accordingto Kahn, A. (2017), hemophilia is a genetic disorder that makes aperson have excessive bleeding whenever an injury occurs to the body.So to say, one suffers from hemorrhage. The problem is caused by thebody lacking some vital clotting factors. It’s also important tonote that there are three types of hemophilia (Zimmerman et al.,2013). These are hemophilia A, B, and C. contrary to type B and C.Hemophilia A is the most dominant one. According to Freedman, AlFadhli, &amp Nizam, (2014), 8 out of 10 people suffer fromhemophilia A. Hemophilia B is caused by lack of factor IX while typeC by the absence of factor XI. More so, the abnormality can beinherited from parents to their offspring. In rare cases, the problemcan develop immediately after birth. The worst part of the conditionis that it`s not curable. Luckily enough, treatment can beadministered to reduce further complications.

It’simportant to realize, however, that knowing the causative agents mayhelp in eradicating or reducing the cases of this disorder. Kahn,(2017) explains that hemophilia is caused by an abnormality in thegene that processes the clotting factors. The factors in question areVII, IX, and XI. The gene is located on X chromosomes that are foundin female species. Therefore, it’s true to say that when Xchromosome with the defect combines with the X chromosome from a malespecies, a female species with hemophilic traits will be born.Additionally, when a defected X chromosome from a female speciescombines with a Y chromosome from male species, a male species withhemophilic traits is also born. Further research by Fasulo, &ampSantagostino, (2013) elaborates that a female species with bothdefected XX chromosomes (homozygous) has the hemophiliac condition.However, the female species with one defected X chromosome does notsuffer from hemophilia due to enough clotting factors from the otherchromosome (heterozygous). For this reason, she becomes a carrier.Perhaps, is correct to say X chromosome with a defect is dominantwhile Y chromosome is recessive in this context ( Oldenburg et al.,2014). But we should also consider that male species having defectedX chromosomes can pass the conditions to their daughters as explainedby Hartmann, &amp Croteau, (2016). Therefore, couples should seekmedical attention when planning their families to minimize futureoccurrences of the disorders (Pasi et al., 2015).

Likethe disease, hemophilia can be identified by its symptoms. Forinstance, there is a case of abnormal bleeding. Blood may be found inurine and stool especially in the case of young kids (Lock et al.,2016). Likewise, a victim is prone to having frequent nose bleedingand pain in the joints. However, hemophilia can only be treated byinjection of a hormone called desmopressin which excites clottingfactors. Sakurai, &amp Takeda, (2014) argues further that preventioncan be done in the clinics by Vitro fertilization where eggs withouthemophilia are fertilized.

Howeverdifferent gene defection shows different conditions, for example,Cystic Fibrosis is caused by a defect in cyst fibrosis transmembraneconductance regulator gene. The gene is similar to hemophilia gene inthat both cause untreatable conditions but however, conditions can beprevented (Srivastava et al., 2013). Contrary to hemophilia, cysticfibrosis cannot be inherited. Conclusively, with the advanced medicalprofessionals, a lot need to be done to find other ways apart fromwhich are available to deal with hemophilia. Couples should alsovisit clinics to seek medical guidance to restrict the passage of thedisorder to the kids.

References

Oldenburg,J., Pezeshkpoor, B., &amp Pavlova, A. (2014, November). Historicalreview on genetic analysis in hemophilia A. In Seminarsin thrombosis and hemostasis(Vol. 40, No. 08, pp. 895-902). Thieme Medical Publishers.

Srivastava,A., Brewer, A. K., Mauser‐Bunschoten,E. P., Key, N. S., Kitchen, S., Llinas, A., … &amp Street, A.(2013). Guidelines for the management of hemophilia. Haemophilia,19(1),e1-e47.

Zimmerman,B., &amp Valentino, L. A. (2013). Hemophilia: in review. PediatrRev,34(7),289-294.

Pasi,K. J., Georgiev, P., Mant, T., Creagh, M. D., Lissitchkov, T., Bevan,D., … &amp Chowdary, P. (2015). A subcutaneously administeredinvestigational RNAi therapeutic (ALN-AT3) targeting antithrombin fortreatment of hemophilia: interim weekly and monthly dosing results inpatients with hemophilia A or B. Blood,126(23),551-551.

Lock,J. (2016). Optimizationof care strategies in hemophilia(Doctoral dissertation, Department of Pediatrics).