Hemophilia

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Hemophilia
Description
Hemophilia is a disorder that is characterized by blood flowing from the body for a long time without clotting. Patients with this disorder will experience long periods of blood flow when they are injured since the blood does not easily develop a clot. The word is coined from Greek words haima which means blood and philia meaning love (Wynbrandt & Ludman, 34). For them their body looses the ability to clot or coagulate which is responsible for stopping the flow of blood. Some common forms of the disorder are Hemophilia A and Hemophilia B that are caused by the deficiency in clotting factor VII and IX respectively. Hemophilia A is more common than Hemophilia B since it occurs more often in the cases reported. The disorder is more likely to occur more in men than females since it is recessive sex linked to the X chromosome; this is due to the fact that males have only one X chromosome as opposed to females who have two. Indeed, it will easily manifest in males when the one chromosome is affected while females becomes the carriers of the disorder (Willett, 26). The bleeding may occur after injury or spontaneously. Patients will have signs of mild bleeding and will at times occur when they are under intense stress. For cases that are moderate the bleeding will occur when they have injury; while cases that are severe spontaneous bleeding where the bleeding occurs without any identifiable trauma, and occur in any part of the body especially at the wrists, fingers spine and feet.
Patho-physiology
The major cause of hemophilia is genetic inheritance; the disorder will be inherited from affected past generation. The genetic tree can be used to clearly understand the gene transfer from the parents to their sons and making their daughters carriers of the trait. For instance with an unaffected father who bears children with a carrier mother, chances are having four genetic formations; these include an unaffected son, unaffected daughter a carrier daughter and an affected son (Goldman & Ausiello, 67). This is a criss-cross type of inheritance where the X and Y chromosomes from the parents mix to bring the offspring. The X gene is the only one affected since it has genes for the VIII or IX factors. The males are affected because they do not have an X gene to cancel out the deficient caused in one X gene as they are XY; hence it will manifest in them. The sons of a mother that is a carrier of the gene have a 50 percent chance of inheriting the disorder, while she still has the same probability of passing the carrier gene to the daughters. In this case the daughters will have mild hemophilia in view of the fact that the X chromosomes are inactivated owing to lyonisation (Goldman & Ausiello, 72). For an affected male that has children with a uninfected female will pass this on to her daughters and make them carriers; surprisingly the sons from the relationship will not be affected as the father will only pass the Y chromosome that will not have the trait of hemophilia. There severity of passing the hemophilia gene will increase for males as the females from the man will be carrier hence increasing the risks of passing the gene; although they do not pass it on to their sons, their daughters being carriers will mean the gene spreads.
 INCLUDEPICTURE "http://presscoverage.us/wp/wp-content/uploads/2011/01/Hemophilia.gif" \* MERGEFORMATINET 

Photo showing the genetic transmission (Source: http://presscoverage.us/soapbox/the-redefinition-of-perfect/)
Hemophilia can also be caused by gene mutations. In this case since the patients have an active clotting factor level there may be gene changes; this will cause severe cases. The severity will be established by the percent of clotting factor the individual has. Severe hemophilia will be those that have less than 1 percent of the clotting factor; moderate hemophilia will be those that have 1-5 percent and those with 5- 40 percent of the clotting factor are classified as normal. Genetic inheritance is responsible for over 70 percent of the cases of hemophilia, w...