Running Head: ANY GENETIC DISORDER 1
ANY GENETIC DISORDER 8
Any Genetic Disorder
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Haemophilia is a genetic disorder that is inheritable that minimizes body ability to regulate blood clotting, in case of an injury to the blood vessel. Like other disorders, haemophilia is more rampant in males. The reason being males have few X chromosomes one chromosome while females have two X chromosomes, so the defective gene is guaranteed to exist in any male who carries the disorder. Since females have more chromosomes and haemophilia is rare, the probability of a female having two defective similar genes is very remote, so females are almost exclusively bearers of the disorder (High et al, 2014). Female bearers can inherit the defective gene from either parent, or by new mutation.
Individuals with the disorder have minimal clotting level of blood platelets or disabled activity of the agglomerated factors needed for a usual clotting process. Thus when a blood vessel is damaged, a non-permanent scab forms. (High et al, 2014). A victim haemophiliac does not bleed more intensely than a person without it, but can bleed for prolonged period. In severe cases even a minor injury can result in blood loss lasting days or weeks.
LIFE EXPECTANCY
Life span of a heamophilic varies with the severity of the condition just like other aspects of the disorder. The life can also be affected by amount of treatment and care awarded to such a condition (Bergstrom et al, 2015). Patients who receive adequate and timely treatment tend to live longer than those who do not receive quick and spontaneous health care.
Today people with haemophilia can live nearly normal lives as compared to a few years back when the life span of a person with haemophilia was assumed to be 50-60 years .
CAUSES
Haemophilia is caused by various factors which include:
Haemophilia A, This is caused by lack of clotting factor viii and is the major cause as it represents about 80%.
Haemophilia B, which is caused by lack of clotting factor ix and represents about 20% of cases.
Haemophilia C, which is caused by lack of clotting factor xi.
Signs and symptoms
Characteristic symptoms differ with severity. Generally symptoms are internal or external bleeding episodes .People with a lot of fatal haemophilia conditions suffer more fatal and more frequent bleeds, while people with tender haemophilia usually suffer more minor signs except after surgery or serious trauma. Moderate haemophiliacs have various symptoms which show along a spectrum between severe and gentle forms.
In both Haemophilia A and B, there is impromptu bleeding but a normal bleeding time, normal prothrombin time, but prolonged partial thromboplastin time. Internal bleeding is frequent in people with severe haemophilia and some individuals with mild one. The most /characteristic form of internal bleed is a combined bleed where blood enters into the joint spaces. This is most popular with severe haemophiliacs and can occur automatic (High et al, 2014). If not treated instantly joint bleeds can lead to lastingly joint damage and deformation .Bleeding into soft tissues muscles and subcutaneous tissues is not so serious but can result to complications and requires a lot of treatment.
Children with mild to moderate haemophilia may not have any symptoms at birth especially if they skip circumcision. Their first symptoms are often constant and large contusion and haematomas from frequent bumps and experience difficulties as they try to walk. Swelling and bruising from bleeding in the joints, soft tissue, and muscles may also occur (Bergstrom et al, 2015). Kids with gentle haemophilia may not have noticeable symptoms for many years. , frequently the first sign in very mild haemophiliacs is much bleeding from dental operation, an accident, or abscission. Females who are carriers usually have sufficient clotting factors from their one normal gene to forbid severe bleeding complication, though some may present as tender haemophiliacs.
Fatal complications are much more usual in severe and mild haemophiliacs.
· Big internal bleeding, for example deep-muscle bleeding, leading to swelling, numbness or pain of a limb.
· Combined damage from haemarthrosis, potentially with a lot of pain, disfigurement, and even ruining of the joint and growth of weakening arthritis.
· Transfusion transmitted infection from blood transfusions that are given as treatment.
· Damaging reactions to clotting factor treatment, including the growth of an immune inhibitor which makes factor substitution less effective.
· Intracranial bleeding haemorrhage is an acute medical emergency caused by the accumulation of pressure within the skull. It can cause disorientation, nausea, unconsciousness, brain destruction , and sudden even death
Scientific discovery
· The most common medical professional to describe the disease was Abulcasis. In the tenth century he described group of families whose males died of bleeding after only small traumas.
· His writing preceded the John Darton discovery of color blindness, where he found that some individuals had problem of distinguishing different colors at a go.
· In 1924, a professional doctor from Finland discovered a hereditary bleeding disorder that resembled Haemophilia localized in the “Islands” Aland, southwest of Finland.
· The disorder “Haemophilia” traces back its name to 1828 when Friedrich Hopff used the term “haemorrhaphilia” while he was a medical student. In 1937, Patek and Taylor, Harvard medical professionals, discovered anti-haemophilic globulin haemophilia resistors. In 1947, Pavlosky, a Buenos Aires physician, found haemophilia A and B to be independent diseases by carrying out a through lab test. This test involved cross exchanging of the blood of one haemophiliac to another ((Ivens et al, 2013). The fact that this had an impact corrected the clotting problem it showed that there were various types of haemophilia.
Though there is no adequate treatment for haemophilia condition, it can be controlled with continuous injection of the inadequate clotting factor (Bergstrom et al, 2015). Some haemophiliacs develop determent against the replacement factors given to them, so the amount of the factor has to be boosted or non-human reinstatement products must be given.
In European countries, common standards of care involve one of two categories: prophylaxis or on-demand. Prophylaxis involves the injection of clotting factor on a prolonged period in order to keep clotting levels adequately high to prevent unexpected bleeding conditions. On-demand cure involves treating bleeding events once they arise. The results of various researchers indicate that prophylactic treatment not only is more impressive than on demand treatment.
On 10 December 2011, a team of researchers and investigators reported the successful treatment of haemophilia B using gene therapy. To prevent rejection, the people were primed with strides to overcome their immune symptoms.
Preventive exercises
It is suggested that people with haemophilia do specific exercises to strengthen the elbows. Exercises include activities which increase resilience, firmness, and strength of muscles, boosting their ability to protect joints from damaging bleeds (Ivens et al, 2013). These exercises are suggested after an internal bleed occurs and regularly to strengthen the muscles and elbows to prevent new bleeding problems. Many suggested exercises include normal sports warm-up and training exercises on a daily basis.
References
Bergstrom, K., Stevens, A., Srivaths, L., Economides, J., & Yee, D. L. (2015). Haemophilia B acquired from liver transplantation: a case report and literature review. Haemophilia, 21(4), e328-e330.
High, K. H., Nathwani, A., Spencer, T., & Lillicrap, D. (2014). Current status of haemophilia gene therapy. Haemophilia, 20(s4), 43-49.
Ivens, I. A., Baumann, A., McDonald, T. A., Humphries, T. J., Michaels, L. A., & Mathew, P. (2013). PEGylated therapeutic proteins for haemophilia treatment: a review for haemophilia caregivers. Haemophilia, 19(1), 11-20.
