X-Linked Disorders: Hemophilia A

Hemophilia is an X-linked recessive disease in which blood lacks blood-clotting proteins. Females have two X chromosomes, indicating that they are generally carriers and transmit the gene to their sons. People with mild hemophilia bleed after surgery, injury, or trauma. Severe hemophilia produces spontaneous internal bleeding in joints and muscles. Fortunately, medicines and lifestyle changes offers hemophiliacs fairly normal lives. Through learning about hemophilia, I became interested in genetic diseases and finding a cure for those

(n.d.). Retrieved October 24, 2017, from https://medlineplus.gov/genesandgenetherapy.html#summary • Gene therapy for haemophilia. (1970, January 01). Retrieved October 24, 2017, from https://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0069890 • https://www.gceguide.xyz/files/e-books/a-level/Cambridge%20International%20AS%20and%20A%20Level%20Biology%20Coursebook.pdf\ • Hacein-Bey-Abina, S., Kalle, C. V., Schmidt, M., Deist, F. L., Wulffraat, N., Mcintyre, E., . . . Fischer, A. (2003).

A large number of mutations for Hemophilia A have been detected and identified. The most common mutation found is the intron twenty-two inversion and intron one inversion of the Factor VIII gene. This mutation occurs in 40-50 percent of people with Hemophilia A. It is caused by the homologous recombination between copies of a DNA sequence. One copy is located on the intron 22 region of factor VIII and the other copies are distal to the factor VIII. Intron one of the factor VIII gene occurs when the factor VIII gene is split which results in the production of two chimeric mRNAs. One of the mRNA has have the exon of the factor VIII and the exons 2-6 on the exon gene of the VBP1 gene, which codes for the subunit of prefolding. The second mRNA has all exons except the last exon of the BRCC3 gene. Other patients that have Hemophilia A acquire the

The active ingredient in Alprolix is a recombinant Fc fusion protein containing the Human Coagulation Factor IX concentrate (Biogen Idec) and is expressed in a human embryonic kidney cell line. It is indicated in adults and children with hemophilia B; a rare hereditary bleeding disorder caused by the deficiency of Coagulation Factor IX. Blood clotting factor IX is located on the X chromosome, therefore, hemophilia B is an X-linked inheritance that predominately affects males. Although there is no cure for patients with hemophilia B, there are available products marketed to replace defective clotting factor such as Alprolix.

However there are 30% of cases are resulted from spontaneous mutation without any family history. Factor VIII deficiency (Haemophilia A) is the commonest type while incidence of Factor IX deficiency (Haemophilia B/ Christmas disease) is one fifth of it. Haemophilia is classified into 3 categories depending on the percentage of coagulation factor activity: severe (< 1%), moderate (2-5%) and mild (5-30%). Moderate and severe haemophilia has significant clinical manifestation as the patients have spontaneous bleeding especially into joint and

Because the genetic defect occurs on the X chromosome, women are carriers of hemophilia but rarely have the disorder. Hemophilia occurs almost exclusively in men.

Hemophilia is a lot more than just a cut that doesn’t stop bleeding. For starters, the word hemophilia is a combination of the Greek words for “blood” and “love”, which is a way of saying people with hemophilia “love to bleed”or just can’t stop to blood. Why is that? A large part about the disease comes from the effect it has on the cardiovascular system, but more importantly the hemostasis of the body. Normally, when damage occurs to a blood vessel walls, there’s an immediate narrowing of the blood vessel which limits the amount of blood flow. Which leads for some platelets adhere to the damaged vessel wall, and become activated that then recruit additional to form a plug. This platelet plug is the result of the primary hemostasis. Leading up to the coagulation cascade to be activated. In 2010, Chris Pallister and Malcolm Watson best summarized coagulation cascade as:

There are many tests that help diagnose this disorder in a person. One of those is a screening test. Another test is clotting factor tests. On a normal basis, hemophilia is found in your genes when you are born. This disease can be treated in different ways. In my research, I found that you can replace the clotting factors in your blood. You would need to replace them because hemophilia comes from deficiency in you clotting factors. This disorder can be found

Hemophilia a blood disease was discovered by people in ancient time. They wrote about the bleeding problem and about blood before they even knew about the clotting process of blood. It was just a little before the world war II that physicians discovered a protein in the blood that cause of hemophilia A. Later Hemophilia had been seen as a royal disease (HOG). This was due to the passing gene of hemophilia in the royal family. The England Queen, Queen victoria who has the gene of hemophilia passed it to her one son Leopold and her two daughters Beatrice and Alice. And Beatrice's daughter who is also the carrier of hemophilia and married to the Spanish royal family and passed it to her son.Alice other daughters of

There are three different types of this disorder each having its own range of severity. The first and most common type of Haemophilia is type A, this type is usually caused by a missing or defective VIII protein. Haemophilia is present in around 1 in every 5000 males. The range of severity in type A ranges from mild to severe. Mild cases are the most common, it is generally only discovered when the afflicted gains a severe enough injury, when having tooth extractions or other surgeries and in many cases the afflicted does not realise until adulthood or even at all. In the rare cases of a female haemophiliac, mild type A can sometimes cause a heavier menstrual cycle, and haemorrhaging during childbirth. The next level of severity is moderate;

In the United States, most people with Hemophilia are diagnosed at a very young age. This disease is inherited, meaning it is passed from the parents to the children. By definition, Hemophilia

There are many genetic disorders in the world. Some are obvious about what they do to a person’s body. While others are more subtle or completely unnoticeable from just looking at them. Some have severe side effects, while others do not. Genetic disorders affect people in that they affect sometimes many people, they can shorten one’s life expectancy, and it alters a person’s body and possibly their physical appearance. One genetic disorder that is more common, but still widely unknown, is hemophilia, a blood disorder.

Hemophilia is a serious disease that could easily lead to death if one is not careful. This disease is a genetic bleeding disorder that slows the blood clotting process and allows the blood to flow without restraint. Those who have hemophilia often bleed long after an injury has occurred. Hemophilia, because it is an X linked disease, occurs far more commonly in males than in females. If a male with hemophilia gets cut or bruised, he could die of blood loss because his body can not stop the bleeding.

This could eliminate the need to have continuous treatments, as is most common today. While research still needs to be done to make sure there are no negative long term effects to this treatment, this study demonstrated the promising future for a new embryonic stage treatment for hemophilia A. It provides a direction for future research to follow regarding the use of embryonic stem cells to treat genetic diseases.

Hemophilia is usually an inherited disorder, which is transmitted from parents to children through genetic heritage; those suffering from hemophilia have clotting factors, or have them in sufficient quantity. The clotting factors are different proteins necessary for normal blood clotting that work in synergy with platelets to promote the coagulation of the blood.