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Hemophilia

Hemophilia is described as an inherited disease wherein blood clot formation does not occur appropriately. The term hemophilia has been derived from the Greek expressions 'haima' denoting blood and 'philia' referring to friend. People who have hemophilia are called hemophiliacs and they suffer from insufficiency of a protein known as clotting factor that acts with platelets to prevent bleeding at the place of an injury. In fact, following an injury, hemophiliacs are inclined to bleed for prolonged periods and they are more vulnerable to internal bleeding.

In other words, hemophilia may be called a disorder in formation of blood clots. Usually, when an individual suffers an injury, the blood begins to clot within a few minutes and this helps in repairing the wound. However, this is not the case with people having hemophilia because one of the major elements required for blood clot formation does not function correctly in their system. This insufficiency in the actions of this vital element necessary for blood clot formation may be absolute or only limited. People who have a complete deficiency of this ingredient in the blood are known to be suffering from severe cases of hemophilia.

However, even in cases of severe hemophilia, blood clot formation does not stop totally, but the process is very slow compared to normal conditions. The consequence of this is formation of flaky or fragile blood clots that are unable to endure the force of blood outflow. In addition, in such situations the tissues of the body get disturbed and the injury does not nurse appropriately. In case of severe or acute hemophilia most of the bleeding occurs internally - usually into the joints and the muscles. However, present treatment of hemophilia is very advanced and if it is initiated early enough there is no reason why the medical condition would persist or cause any hindrance in the patient's routine life.

Precisely speaking there are several ingredients involved in the process of blood clotting and the majority of them comprise proteins. We generally take these ingredients regularly through our food to ensure that our body is ready to react whenever there is any injury. Since we take these ingredients everyday, in the normal process the fresh elements are produced and supplied to the bloodstream, while the older elements die and are reprocessed or are get rid of by the body. In normal conditions, the intensity of the active ingredients in the bloodstream is quite low. However, as soon as there is any injury, it sets off a rise in production of these ingredients, which are then carried by the blood to the place where they are required for forming blood clots. Once they are delivered to the requisite sites, these ingredients immediately start restraining the harm and, at the same time, initiate the process to heal the wound.

It may be mentioned here that majority of the elements involved in the formation of blood clots are known as factors. In all, there are 12 such factors. One of these major ingredients is known as factor VIII, while another is called factor IX. When the body is unable to manufacture the usual factor VIII or the regular factor IX, it leads to the medical condition called hemophilia. In the instance when the factor VIII is abnormal (not normal), the medical condition is known as hemophilia A. Similarly, when the factor IX is not normal, the disorder is known as hemophilia B.

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Between the two types of disorders, hemophilia A is more common - in fact, it is five times more prevalent compared to hemophilia B. Hemophilia A is also known as a deficiency of factor VIII, classical hemophilia or at times simply as 'hemophilia'. Hemophilia can often be hazardous during treatment as factor VIII does not serve any purpose for an individual who also has hemophilia B. On the other hand, hemophilia B is denoted as a deficiency of factor IX and in the United Kingdom, where the disease was first diagnosed in a patient, it is particularly known as Christmas disease because the name of the person was Christmas.

Similar to the factors VIII and IX, all other ingredients or elements involved in the process of blood clot formation are categorized as Roman numerical, according to an international agreement.

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Acuteness

In situations where all the ingredients or factors responsible for blood clot formation are anomalous or abnormal, the disorder or hemophilia is said to be acute or severe. On the contrary, instances when only a number of the factors are abnormal, the disorder or hemophilia is said to be of modest nature or of gentle harshness. Speaking in the terminology of numerals, an individual suffering from severe or acute hemophilia A possesses an intensity of factor VIII in his or her blood of zero international units. In other words, the patient has zero per cent intensity where the mean is normal. An individual with gentle hemophilia A possesses more than 0.05 international units in each milliliter of blood.

Being aware of the level or intensity of the affected factor or ingredient responsible for blood clot formation is imperative for at least three causes, including:

  • Usually, but not for all time, the level or intensity points to what a patient may anticipate vis-à-vis physical problems.
  • In addition, the level of the ingredient also specifies the type of treatment that is expected to be successful in a particular patient.
  • In fact, the level is common in all members of the same family. Hence, an infant born in a family having a medical history of mild hemophilia will also inherit mild hemophilia.

Heritance

It is important to note that hemophilia is a medical condition that is hereditary. This denotes that the disease is bequeathed from one generation to another in a family having a history of this medical condition. The orders for producing the proteins like factors VIII and IX that are involved in the process of blood clotting are known as genes. In fact, all such genes jointly comprise the outline of an individual's life as well as his or her uniqueness. In all the human body contains as many as 100,000 genes that are together known as genome.

Any newborn inherits one half of his or her genome from their father and the other half from their mother. In fact, the genes are transmitted through the infant's father's sperm and the mother's egg into the chromosomes, structures inside the newborn's body known as chromosomes. During the fusion of the sperm and the egg at the time of conception actually determines the design of an individual's future right at the time of fertilization of the egg.

Precisely, humans possess 46 chromosomes in pairs. Of these 46 chromosomes, two establish the gender of any individual. These chromosomes are called X and Y. An individual receiving two X chromosomes (i.e., XX) will be a female, while anyone getting an X and a Y chromosome (i.e., XY) will be born as a male. As the genes for hemophilia A and B are present on an X chromosome, they are known to be linked with gender chromosomes.

Women receive two directives for manufacturing the factors VIII and IX - ingredients involved in the blood clot formation process, as their genes comprise two X chromosomes (XX). This has a definite advantage, as when one set of instruction is not working; the other set gets ready to fulfill the discrepancy. In such cases, the inactive anomalous or abnormal gene in women is covered up by the usual actions of the additional gene present in the next X chromosome. This is said to be the main reason for women usually not having hemophilia. Any individual possessing such an abnormal or anomalous gene is known as a carrier of the disease. In fact, they are called carriers because they carry the abnormal gene and subsequently contaminate their kids with the faulty gene. It is an extremely exceptional case when a woman may receive two abnormal factor VIII, factor IX or genes from her parents and have hemophilia. However, such exceptional cases are possible only when an individual with hemophilia copulates with a person who is a carrier of the medical condition.

In fact, there is an equal possibility of the carriers infecting their sons and daughters with hemophilia. In fact, the chances of this taking place are 50:50. Here are some possibilities when a carrier of the disease mates with anyone having hemophilia:

  • The newborn baby will not become an heir to the hemophilia gene if the X chromosome along with the regular gene is inside a fertilized egg.
  • However, a newborn will receive the hemophilia gene from his or her parents if the X chromosome along with an abnormal gene is present in the fertilized egg.
  • If the newborn is a female, like her mother, she too will also become a carrier of hemophilia. If the newborn is a male, he will have hemophilia, as the Y chromosome in his gene does not posses any spare set of instructions for producing factor VIII or factor IX that work to facilitate the blood formation process.

A male, whose gender chromosomes comprise an X and a Y, with hemophilia may fertilize an egg (essentially an X chromosome) with a sperm that may contain an X chromosome or a Y chromosome. When his X chromosome fertilizes an egg, it results in the formation of a pair of X chromosomes (XX) denoting that the child will be a female. Since the X chromosome of the father contains abnormal genes, it is natural that all his daughters will be carriers of hemophilia. However, if the Y chromosome of the male fertilizes an egg, it will result in a pair of XY chromosomes, denoting that the child will be a male. Again, since the Y chromosome of the father is normal, it is expected that all his sons will also be normal. As these sons are unable to inherit hemophilia from their parents, they are also not in a position to transmit the disease to any of their respective offspring. In such cases, the streak of inheritance of the medical condition comes to an end and henceforth, these sons as well as their offspring will all be normal people without the disease.

It may be mentioned here that almost 33 per cent of the entire genetic chaos appear to be happening all of a sudden. In fact, in most cases family history regarding the generic disorders are absent. The reason behind this is the fact that the composition of our genes goes through alterations at times and any one of these modifications is able to cause hemophilia. Such changes in the genetic composition are known as mutations. Barring rare expert examinations, it is actually very difficult to determine the precise time of such mutations in any individual having a family history of hemophilia. As far as the timing of the mutations are concerned, there are numerous possibilities - a mutation may have taken place in the immediate past or it may have happened several generations before and it has been naively bequeathed down the female linage. And when is done, the default X chromosome that receives instructions to make factor VIII or factor IX that are involved in the process of blood clot formation are covered up by the actions of the normal X chromosomes. It may be noted that the females have a pair of X chromosomes that comprise their gender gene.

When treatment is essential

In the instance of your child being diagnosed of suffering from hemophilia it will take some time to adjust yourself with the situation and living with the child. Every time you are likely to be plagued with the worry that your child has hemophilia. In such cases, it will be difficult to think of anything else, but the fact that the child's future will be disturbed and difficult and also be troublesome for the family. However, there is unlikely to be any horrible bleedings during the childhood. Hence, you and your child will have sufficient time to educate yourselves regarding the manner in which you can deal with the routine raps and bruising before more serious bleedings commence.

Diagnosis of this medical condition may be done from the cord blood or in the newborn baby followed by several silent months during which hemophilia will result in only a few, if they are any, noticeable symptoms. As the mobility of a child having severe or acute hemophilia increases, he or she will be more prone to injuries and bruises. Though the injuries may appear to be nasty, they actually do not hurt them and until there is a massive collision, these bruises are more or less artificial or just skin deep. If they try to move their fingers over these bruises, they are likely to feel small lumps that may be shifted effortlessly above the tissues lying beneath. If this can be done, there is no requirement for any remedy. However, if you are unable to do this, look for instant medical assistance. If you have any permanent bruise, it is an indication of the fact that there is profuse bleeding deep inside the tissues and this will almost certainly require treatment.

In such cases, the bleeding occurs very close to the joints and unless the problem is insignificant, people having some understanding of hemophilia ought to inspect the problem. Although bleeding into the joints resulting in the bulge and inflammation of the joints are not likely till the age of two years, they may still happen at times in children below this age. However, if such symptoms do take place, it is essential to get treatment as early as possible as this will help to prevent any enduring harm. This is the primary reason why some physicians have been advising regular injections of prophylaxis, in which factors VIII and IX are administered to children above the age of two years and having severe hemophilia.

Besides bleeding into the joints or deep muscles, it is essential to seek the physicians' advice on what needs to be done in the case of head injuries. It is natural that all toddlers will trip and knock their heads. In such situations, it will be actually very tricky to determine if an injured head requires to be examined or not.

Tests and vaccinations

A number of tests may be conducted on a newborn to ascertain whether he or she is having hemophilia. Examinations, such as Guthrie test for phenyl-ketonuria, usually entail obtaining a small sample of blood by pricking the heel of the baby. In fact, the prick only injures the baby temporarily and does not cause any damage to a newborn inheriting hemophilia. It is important to note that, barring an urgent situation, never should any healthcare provider obtain blood sample from a newborn from a blood vessel close to his or her neckline (a peripheral jugular vein) or the fold or hollow on either side of the front of the body where the thigh joins the abdomen or the groin (femoral vein) with a view to diagnose whether the child has hemophilia or not. As these blood vessels are comparatively big, pricking around them may prove to be quite unsafe. In case it is essential to obtain blood samples from the veins close to the neckline or the groin, it is essential to keep a pressure on the spot for a minimum of five minutes and subsequently examine the place frequently for a number of hours. In the event of any troublesome swelling at the site, you need to put more pressure and this may also require some out of the ordinary healing.

In case the healthcare professionals fail to make a diagnosis from the blood sample obtained from the umbilical cord, it is advisable to wait till a prominent vein is formed and located in the wrist, hand, fold of the elbow or above of the foot of the newborn. The fact remains that as babies start growing and have mobility, the veins begin to appear better. In fact, it is comparatively not tricky to entrée any of the secondary veins before a baby is ten months old unless he is extraordinarily fat.

In addition, children with bleeding disorders should get the recommended vaccinations for their age group. The injections used to immunize are small in quantity and if inoculators maintain the pressure of their fingers at the spot of the shot for a minimum of five minutes, it is unlikely to result in any troublesome bleeding. It is important to note that besides inoculation all other types of intramuscular injections are prohibited in patients suffering from hemophilia. In such cases, medications may be administered through alternative methods, generally into a vein. The primary reason behind this is simple. In most cases, particularly antibiotics are generally quite huge in quantity and are able to stimulate far-reaching bleeding into the muscles without any doubt.

Healing

Treatment of hemophilia has become trouble-free these days. This is especially true for the developed nations where it is easy to get excellent blood products. Precisely speaking, treatment of hemophilia involves reinstating the absence of blood clotting actions of factor VIII or IX.

In the instance of people enduring hemophilia A, the replacement of the missing clotting activities of factor VIII or IX may be done by making use of a product prepared from blood plasma supplied by human donors or, sometimes, by pigs. Another way to do this is to use a factor VIII formulation prepared artificially by means of bioengineering. Whatever may be the product that is used to treat hemophilia, it is essential that they should go through strict examinations and steps are taken to eliminate any possible viral infection. In the case of hemophilia B, the formulation will possibly be a factor IX distillate prepared from human plasma.

Since all such condensed varieties of factors VIII and IX are quite costly, they need to be used judiciously. All such formulations are highly effectual in treating hemophilia and their launch in the market has virtually transformed the management and cure of this medical condition. During the period when these expensive formulations were not obtainable in great amounts, hemophilia treatment was done with unprocessed blood plasma in the formula of fresh frozen plasma or cryoprecipitate (a precipitate of factor VIII that is formed by cooling blood plasma). It was essential to store both these products in deep freeze. While these plain products are highly effectual in treating hemophilia, they are not very safe vis-à-vis viral contagions. In addition, it is more difficult to store as well as administer these simple products. Comparatively, the latest formulations for hemophilia treatment are expensive, but safer and also easier to administer.

Supplements and herbs

It is important that physicians use traditional or predictable medications to treat hemophilia. If you are suffering from hemophilia, always ask for immediate medical aid whenever you experience bleeding or pain and swelling at the joints. Nevertheless, there are a few CAM therapies that are likely to be effective when they are used in combination with traditional medications for specific symptoms of hemophilia. For instance, emotional and mental strain often influences the amount of bleeding. In fact, there are a few mind-body treatments that may be effective in alleviating pressure and nervousness. Findings of a number of researches have also hinted that hypnosis may perhaps lessen and not totally do away with the requirement for blood transfusions.

However, thus far there has been no research that has scrutinized the worth of herbs in particularly treating hemophilia and hence, it is not advisable to utilize herbal remedies without consulting a physician or without their direction. Nevertheless, depending on their individual experiences, some physicians or healthcare providers may suggest certain herbs that fortify the blood vessels as well as work as astringents to lessen the severity of the bleeding. These astringents actually help to cause contraction of the blood vessels.

Some of the herbs that your healthcare providers may recommend in the treatment of hemophilia may include:

While the above-mentioned herbs may be useful for hemophilia patients, there are a number of herbs that they should avoid, as using these herbs will only increase the severity of bleeding. Some of the herbs that need to be avoided by hemophilia patients are as follows:

Homeopathy

Precisely speaking, there have been very few studies to examine the effectuality of homeopathic medications to treat hemophilia. Nevertheless, a number of reports have stated that using homeopathic remedies for hemophilia treatment have not only proved to be helpful for patients suffering from this condition, but also diminished their requirement for substances aiding blood clotting, such as factor VIII. It may be mentioned here that prior to prescribing a remedy, the homeopath practitioners take into consideration a patient's disposition - the physical, intellectual as well as emotional composition. Before deciding on the best suitable medication for a particular patient, a veteran homeopath practitioner will always take these aspects into consideration and evaluate them minutely along with any symptoms present in the patient.

The homeopathic medications that have been found to be effective in treating hemophilia in certain cases are as follows:

  • Arnica
    This homeopathic remedy may be used for bleeding both internally as well as externally soon after an injury. This medication is also effective for treating trauma and shock.
  • Carbo vegetabilis
    This medication is useful for people having pale skin, weakness and very feeble. It can be administered to people who are also lethargic.
  • Crotalus horridus
    This homeopathic medication is administered in the case of bleeding into the muscles as well as in cases where the blood seems watery and gloomy. The medication is especially suitable for people who are tall, slender and pale suffering from diarrhea and have a dislike for warm food, drinks or may suffer from the feeling of being alone and death.
  • Hamamelis
    This remedy is used for bleeding from any incision or injury, particularly effective in cases of hemorrhoids, nosebleeds and busted blood vessels in the eye.
  • Lachesis
    This homeopathic medication is generally used for profuse bleeding when the color of the blood is murky. This remedy is especially useful for red-headed persons those that are envious and disheartened.
  • Millefolium
    This remedy is useful for internal as well as external injuries accompanied with considerable bleeding and weak blot clot formation.
  • Phosphorus
    This is used for recurrent and profuse bleeding. This homeopathic remedy is most effective for persons who suffer from cold sweats and crave for alcoholic beverages. Such people may often have the feeling that clothing leads to suffocation of their throat.
  • Secale
    This medication is especially used to cure the type of bleeding that deteriorates with heat and diminishes owing to cold.

Additional things you may do

Undertaking physical exercises on a regular basis will help to develop powerful muscles and this, in turn, will enable you to avoid problems of the joints. In fact, it is possible for the hemophilia patients to undertake majority of the physical exercises unharmed. However, such people should keep off from participating in any type of contact sports. In addition, seeking physical therapy possibly has a crucial part in lessening problems of the joints owing to repetitive bleeding in the affected areas. Your physical therapist may recommend you the following work-outs:

  • Stretching
  • Resistance training (like weight lifting)
  • Movement exercises

However, it is important that people with hemophilia should not do things on their own, but work with their physicians and physical therapists to create a health regimen that suits them best. It is essential that this program should be followed for a minimum period of six to nine months in order to cure chronic joint inflammation as well as thwart acute bleeding.

Acupuncture
Before we discuss this topic, it needs to be mentioned that people suffering from hemophilia should not try acupuncture as it may enhance the hazards of bleeding. However, despite this, if they desire to try out acupuncture, they should essentially work with a qualified and certified acupuncturist experienced in handling hemophilia cases. In fact, it is always advisable that hemophilia patients should go for non-invasive acupuncture like laser acupuncture, as this will not augment the risk of bleeding.
Nourishment
Honestly speaking, thus far, no research has been undertaken to ascertain the connection between nourishment and hemophilia. Nevertheless, it is advisable that people with hemophilia should keep away from taking vitamin E supplements and fish oil, as these substances have been found to prolong the bleeding period by preventing any cohesion among the platelets. On the other hand, vitamin K has a crucial part in aiding usual blood clot formation and may be included in the diets of people having hemophilia. While more studies are needed in this regard, such patients may also benefit by taking vitamin K supplements. However, here is a word of caution - hemophilia patients should never ever take vitamin K supplements without consulting their physician.

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