The Disease Hemophilia in the Medical Research

Hemophilia is a genetically inherited disease that causes blood to be unable to properly clot. The gene disorder is due to an error in the encoding of a certain gene. The gene that is mutated is, usually, located on the X chromosome, which makes the disease sex-linked. Due to the fact that the mutation occurs on the X chromosome, hemophilia is inherited to males (Scrum). Men do not possess the factor VIII that is required to clot blood, which means that they will suffer from occasions of extreme bleeding.

Women that have the disorder usually do not show any signs of having it, and will pass on the gene to their child (Scrum). There are very minimal phenotypic effects of hemophilia In women, the gene disorder could cause Turner’s syndrome within males, the extra X chromosome is what will cause the disorder.

The only visible symptoms are the fact that men will continue to bleed from the smallest of cuts or lacerations (Scum).

There is a scientific article that discusses how a person could inherit hemophilia, it has always been believed that the disorder had to be given through genes, more specifically the X gene and the mutation of factor VIII. In this study, however, they found a carrier for the disorder that had no family history of the disorder. After a few studies, they found the mother and sisters were carriers, but they still had not found the source the grandmother was a suspected carrier, but the mutation was not found in her peripheral blood then they assumed it was the grandfather.

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They did find the mutation and the source of the mutation (Mosaicism) as, this study did show that in rare cases, hemophilia A could be acquired. There is currently no a known cure for the disease, except by undergoing a gene transplant (Scum). Alas, many scientists and doctors have tried to discover a non surgical cure. They concluded that taking prophylaxis is possible. They believed that by treating the disease with prophylaxis that they could limit the cases of hemophilia A and B in children (United Kingdom). Alas, if the mutation is in your family, it is unable to be avoided to conclude, hemophilia is an inherited disease that mutated the X chromosome. The disease cannot be treated, other than a gene transplant, and it can not be avoided if the disorder is within your family and if you are a male, there are very little phenotypic signs of the disease other than profuse bleeding. Hemophilia is rapidly becoming a household name due to the increasing number of people that are being diagnosed it may not be life-threatening in most cases, but it is a semi-deadly gene disorder that needs to be taken with the utmost seriousness.