Genetic Diseases: Hemophilia A - Essay Example

HAEMOPHILIA A by Genetic Diseases: Hemophilia A Introduction Genetic diseases, also referred to as genetic disorders, are illnesses caused by a single or more forms of abnormalities in the human genome. This is especially true for the conditions, which are present from the time of birth (congenital). A majority of these disorders are however quite rare, affecting an individual in every several thousands, or even millions. To be noted is that these disorders may not or may be heritable i.e. passed through human genes. In the non-heritable genetic types, these defects can be caused through new changes or mutations to an affected individual’s DNA. In such case scenarios, the defects present are only heritable in the event of occurrence through the human germ line. These diseases, especially new occurring ones, can be caused by inherited genetic conditions in some individuals, or by mutations in others. However, this is mainly so by way of environmental causal factors in a majority of populations (Zaiden, 2013). Different individuals do react differently to the presence or absence of such disorders. This affects the individual by whether, to what extent, and when, he/she will actually suffer from the disorder. To be noted is that this is usually influenced by the prevailing environmental factors present, and/ or the affected individual’s development. Hemophilia A: Analysis As Bowen (2002) provides, Hemophilia A is a genetic disorder, which is primarily caused by the deficiency in factor VIII, essential for clotting, quick, and timely wound recovery. A negative effect is that there is an increase of bleeding, affecting mainly the males of the human species. The biggest percentage of this disorder is usually inherited, in the form of an X-linked trait that is recessive. However, a minor percentage of these cases do exist, arising from mutations, which occur spontaneously. Being an X-linked recessive trait, it is thus prevalent in males, as well as females who are homozygous in nature (Bowen, 2002:4). This however does not mean that the same type, A and at times B, do not occur in females who are heterozygous. This is true especially in the case of X-inactivation, thus the recommendation that all recognized potential carriers of factor VIII and IX be examined. This is especially prior to cases of surgery, and in the event of bleeding, that is considered clinically significant (Bowen, 2002:6). A small percentage of 5-10% of those affected with this disorder is usually impacted because of their bodies making a version of the factor VIII protein, which is dysfunctional (qualitative deficiency). However, the larger majority of those affected are influenced by their bodies’ insufficient production of factor VIII (quantitative deficiency). Severe deficiency is defined as being less than 1% activity of factor VIII (11). 45-50% of those affected do have the same mutation with the case of an inversion, within the factor VIII gene resulting in the total elimination of the production process of proteins. Thus, genetic tests are most recommended when testing family relations, in the context of known cases of the disorder. It is approximated that 30% of all patient cases do not contract the ailment from genetic makeup, but rather as a cause of new mutations (Bowen, 2002:17). However, because this disorder can be caused by different variations of mutations, the initial diagnosis and classification ought to be done through measurement of protein activity as opposed to genetic testing. Severity is spread out, because of some patients having a greater level of active clotting factor. This is influenced by the change differences to the affected gene in addition to those on the resulting protein makeup. As aforementioned, severe cases are those defined as being less than 1% of active protein factor. Moderate cases are those in individuals having 1-5% of the active protein factor. Mild Hemophilia is the case where the rate is between 5-40% of normal levels, about the presence of active clotting factor. Symptoms and signs of the disorder do vary in characteristic; influenced by the severity levels, as aforementioned. In general, however, symptoms of the ailment are characterized by either external or internal bleeding episodes, referred to as ‘bleeds’. Severe cases however portend to affected individuals suffering more frequent and severe bleeding instances (Kliegman, 2011:44). Those suffering from the mild form, do suffer only minor symptoms, except in cases after serious trauma or surgery. A majority of affected hemophiliacs do however exhibit varying symptoms, as Griffiths et al. (2012) allude, with manifestation occurring between mild and severe forms. Different signs do exhibit varying phases of the disorder, rated from mildness to severity. Examples include hematomas or severe head bruising, in addition to intracranial hemorrhage in the event of utility of vacuum extraction or forceps in vaginal births (Griffiths et al. 2012:46). Circumcision can also cause bleeding, with prolonged bleeding emanating from a venepuncture or wound, as well as a heelprick. In those patients exhibiting mild to moderate Hemophilia, a later-date trauma, may result in a patient’s first serious bleeding bout (Griffiths et al. 2012:51). This disorder, unfortunately leads to severe increases of risks associated with prolonged bleeding especially from common injuries. On the other hand, severe bleeding cases can occur spontaneously, and without any obvious observable case. Pertinently so, is the fact that bleeding can occur on any part of the body, with superficial bleeding often occurring in prolonged sessions (Griffiths et al. 2012:34). The latter, may be caused by shallow lacerations, or abrasions in addition to scab being easily broken. This is influenced by the lack of the critical fibrin component, thereby causing an episode of re-bleeding (Griffiths et al. 2012:60). Superficial bleeding ought to be taken seriously, as it may become troublesome to address. In terms of effect, the most serious sites of bleeding by far, include muscles, the digestive tract, joints and the brain. Of core importance to note is that both joint and muscle hemorrhages, are vivid examples of hemophilia (Griffiths et al. 2012:69). While joint bleeds are not life threatening in typical nature, they however do pose a serious symptom of the disorder. This is exemplified by the fact that repeated bleeds, especially into a joint capsule, can indeed cause joint damage permanently. The disfigurement may in turn, result in chronic arthritis and/ or disability. To be noted is that joint damage is usually because of the human healing process, as opposed to the presence of blood in the joint’s capsule. Joint bleeds, formed when the joint is broken by body enzymes, also degrade the bone structure in that given area. This in turn exerts a lot of pain upon individuals who are unfortunately afflicted with the disorder. Treatment procedures for genetic disorders are usually rare, though a possible treatment method being tested is gene therapy. This does not however mean that individuals afflicted, cannot enjoy their lives to the best of their ability (Collins & Percy, 2010:187). Treatment Measures and Procedures Treatment of genetic disorders as Collins (2011) provides, usually begins with a prognosis, vital in diagnosing the types or forms of illness. Diagnosis is usually suspected as coagulation tests are carried out. This is when PPT increases in the context of optimal PT levels, in addition to bleeding time frames. In case of hemophilia, PTT tests are usually the first type to be conducted. However, very low levels of Factor VIII ( Read More