One of the most prevalent genetic disorders, hemophilia is characterized by a reduction in the blood's capacity to clot, which is crucial for stopping bleeding in the bodily tissues after an injury. The illness comes in two different variants, Hemophilia A and Hemophilia B, which are caused by deficiencies in the clotting factors VIII and IX, respectively (Davies andKadir 2016, 32). The difficulties that follow include easy bruise development, bleeding in the joints or brain, and significant blood loss on wounded tissues. Such risks make the disorder one of the serious problems that affects humans requiring health professionals to understand its genetics, biochemistry, clinical manifestation, laboratory determination, and treatment of the disorder.

Genetics of Hemophilia

In humans, there are two chromosomes (the X-chromosome and Y-chromosome). Males have both X and Y chromosomes while females have two X chromosomes. Upon mating, they pass genes to the young ones. Depending on the gene combination, a boy or girl child may be born (Martinowitz et al. 2015, 787). When it comes to inheritable disorders such as Hemophilia, a mother is usually the carrier. The defect is associated with the X-linked recessive making it more prone to males than in females (Khair, Meerabeauand Gibson 2015, 1107). This is because the X chromosome is not affected and instead yields a female carrier. Say for example the family is composed of two girls and two boys, chances are one boy may be affected by the disorder while the other one may not have any defect. On another hand, one of the women may be normal while the other one a carrier for the disorder (Ohira et al. 2015, 230). The girl who is a carrier like her mother will not show any properties of poor blood clotting because the X chromosome can suppress the X recessive. On the side of the affected boy, the X chromosome that carries the defect suppresses the Y chromosome making the defect profound (Nijdam et al. 2016, 143). In the situation the boy child has the recessive chromosome in him, it will tend to be loud than the Y chromosome (Chai-Adisaksopha et al. 2015, 732). The X recessive is one which has the deficiency in the clotting factors and therefore in females it tends to be suppressed while in males, the Y chromosome which has no clotting factors has no ability to cancel the effects of the recessive chromosome (Berntorp et al. 2015, 6).

Normal male Carrier female







XY

Normal male

XX

Normal Female



Xx

Carrier





xY

Hemophiliac son





Figure 1: Inheritance of chromosome causing hemophilia

Biochemistry of the Disorder

Under normal circumstances, when an injury occurs, enzymes and platelets become activated in response to the loss of blood (Almeida et al. 2015, 786). The clotting cascade is then activated as well as propagation of clots. Activation of a series of inactive precursors and proenzymes is a very critical process in coagulation in that result in stepwise amplification of the response (generation of factor VIIa in small amount but has the significant implication of activating a huge number of molecules of factor IX and VIII) (Cayir et al. 2014, 310). The outcome is that large amount of thrombin is produced (Brand, Dunn & Kulkarni 2015, 32). Clotting is so much dependent on the availability of VIII and IX to produce the amount of thrombin required in the process. Although the two factors play a critical role in clotting, the process of activation of the two is distinct (Gilbert et al. 2015, 763). Factor VIII is activated by both thrombin and Xa while factor Xla is responsible for activation of IX with the help of thrombin. The progress of clotting is determined by the level of factor IX, and VIII produced, and therefore Xa and thrombin are formed which aid in clotting. With hemophilia, it is hard to complete the cascade because of the missing factors (Sockalingam, Othman andMahyuddin 2015, 610). As was mentioned in the introduction section, there are two forms of hemophilia: A and B. A is associated with the body lacking factor VIII while B is due to lack of IX. As a result, the clotting process is not achieved leading to profuse bleeding that could lead to death if not properly managed (Foppen, Schaafand Fischer 2016, 122). Hemophilia A is induced by the mutation in G8 gene while the mutation in F9 gene causes b. There less common form of hemophilia is C which occurs as a result of insufficiency of factor XI available in the body (Ljung andGretenkortAndersson 2015, 779).

Clinical Manifestation of Hemophilia

In the condition where the level of clotting factors is reduced mildly, bleeding may only be seen after a trauma or surgery (Minuk et al. 2015, 738). On another hand, if the level of clotting factors is deficiently severe, one may experience spontaneous bleeding. There are several ways this disorder may manifest itself in patients. First, the patient may have excessive bleeding following an injury or a bruise or after physicians have conducted a surgery (Kessler andKnöbl 2015, 38). Secondly, the patient may feel a sudden pain, warmth and swelling in the parts of the body where there are joints including elbows, knees, hips, and shoulders (MyrinWestesson et al. 2015, 801). This is more often caused by internal bleeding where the blood lacks the ability to clot. Thirdly, during treatment, a patient feels fatigue, especially in the joints. This is because internal bleeding may have occurred in the parts of the body. Under normal conditions, joints have spaces left to allow movements of bones and tissues (Dargaud et al. 2016, 13). When one has hemophilia, blood occupies the spaces in the joints. This manifestation is only common in individuals who are hemophiliac and occurs without any evidence of trauma. Such a problem need quick treatment since delay may cause permanent damage to the joints (Harrington et al. 2016, 107). Severe hemophilia is easier to determine as compared to mild one. Mild hemophilia may take many years to detect. Fourthly, individuals who are hemophiliac produce stool and urine that has traces of blood. Although this may be one condition for detecting some diseases and disorders, it would be wise not to overlook the possibility of one having the defect (Goodeve 2015, 1188).

Laboratory Determination of Hemophilia

Screen Tests are the most common ways of determining whether individuals have the defect because of its ability to show whether the blood can clot properly (Fischer et al. 2015, 613).There are various types of screen tests for diagnosing this disorder. The first one is Complete Blood Count (CBC). It is one of the common tests used in determining the amount of hemoglobin, number of red blood cells and red blood cells in the blood (Moerloose et al. 2015, 4). People with hemophilia hemoglobin and red blood cells can be lower than normal. Activated Partial Thromboplastin Time (APTT) test is the second test which is used to determine the length of time it takes before blood clots (Rocino et al. 2016, 98). It also helps in assessing the ability of the factors involved in clotting including VIII, IX, XI, and XII. When any of the factors is lower than normal, it takes longer for clots to be formed in people with hemophilia A or B. Prothrombin Time (PT) test is the third test used for confirming the amount of time taken for the blood to clot (Carcao et al. 2015, 17). Unlike the APPT test, this one assesses the ability of factors such as I, II, V, VII, and X to clot. When any of these factors is low, it takes an abnormally long time to clot (Nolan et al. 2016, 74). The fourth test is fibrinogen test that assesses the ability of the blood of the patient to clot. It is ordered either with APPT or PT after determining that it takes long to clot (Evangelista et al. 2015, 780). Haemophilia A and B can: Severe, moderate or mild.

Classification

Factors VIII and IX levels

Severe

< 1% of the normal

Moderate

About 1-5% of the normal level

Mild

5-30% of the normal level

Table 1: Classification of Hemophilia A and B

Forms of Screening

Screening

Role

Complete Blood Count (CBC

Measuring the amount of hemoglobin, size and the number of RBC and the number of white blood cells

Activated Partial Thromboplastin Time (APTT) Test

Determine the clotting ability of the factors including VIII, IX, XI, and XII.

Prothrombin Time (PT) test

Measures the capacity of factors I, II, V, VII, and XI to clot

Fibrinogen Test

Tests the ability of the patient to form clots when tissues are cut or bruised and is done parallel to PT and APTT.

Table 2: Types of tests for Haemophilia

Treatment of the Disorder

The process of treating hemophilia is regarded as replacement therapy. The treatment process involves introducing clotting factor VIII and Ix for hemophilia A and B respectively into the veins slowly (Henrard, SpeybroeckandHermans 2015, 717). These factors are concentrated after being acquired from human blood. However, the blood has to be treated for other communicable diseases. Although treatment is done on the blood, the risk of getting infections from the clot factors is minimal (Olsson et al. 2015, 743). Also, the risk can further be reduced by taking the clotting factors that are not made from the blood of humans. These are called recombinant clotting factors.

Conclusion

Hemophilia as a bleeding disorder makes the process of clotting challenging and is associated with lack of essential elements of clotting such as factors VIII and IX. Profuse bleeding is the primary outcome of developing this inherited coagulation disorder that affects more males than females especially due to a mutation that occurs in the genes. Females only serve as carriers while males, especially those with the recessive chromosome form of X suffer. Despite being inherited, there are options for treating it in this era of hi-tech. Nevertheless, much need to be done to reduce the suffering that people diagnosed with it go through.



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