Hemophilia is a rare type of bleeding disorder. In this disorder, the blood does not clot as it does normally. Contrarily, this certainly does not mean that if you are suffering from this disorder and have a cut you will bleed to death. However, you do tend to bleed for longer time than others do.
Moreover, there are chances that the injury may cause bleeding inside and you may continue to bleed internally such as in your elbows, ankles and knees. This internal bleeding is dangerous and life threatening as it damages the internal organs.
The body of a normal person has a special protection mechanism to protect itself and stop the bleeding process. It does so by producing sticky cells of blood known as platelets.
The platelets work very quickly, plug any grazes or cuts, and instantly help the blood in the formation of clot by releasing biological molecules activating chemicals.
In case of patients suffering from hemophilia, either of the clotting factors required for proper coagulation is absent. There are two types of hemophilia:
Usually, hemophilia is identified very early in the childhood when even a minor injury takes longer time to stop bleeding than normal. However, in some people the disorder is identified in late childhood or early adulthood.
Depending upon the presence or absence of clotting factor in your blood you can suffer from mild, severe or even moderate hemophilia. Sadly, most of the patients suffering from hemophilia A suffer from a severe type of hemophilia. The activity of factor VIII is even less than one percent of people having severe hemophilia A. On the other hand, people without any hemophilia disorder have 100 percent active VIII factor. Surprisingly, hemophilia is found more in males and rarely in females. In India alone, one in every 5000 males has hemophilia.
Hemophilia is neither contagious nor can you be infected by it like viral or bacterial infection. A patient with hemophilia is born with this blood disorder.
How does it occur?
Hemophilia is caused either by mutation or is inherited.
30 % cases of hemophilia are developed due to the gene mutation that occurs spontaneously. In this case, the mother does not serve as a carrier and the child is the first in his family to acquire such a disorder or to carry a defective gene.
Although, it is not very common to acquire a blood disorder like hemophilia in rare cases, this may happen and the disorder may develop during some period in your lifetime. This mostly happens when the body starts producing antibodies or proteins that attack the factors responsible for clotting. This inhibits the clotting factors from coagulation and stopping bleeding.
Hemophilia complications may include:
Deep Bleeding Internally: This bleeding usually occurs within the deep muscles and lead to swelling on the limbs. The swelling puts pressure on the nerves and causes pain and numbness.
Damage to the Joints: Internal bleeding pressurizes the joints leading to severe pain. If this condition is left untreated, the consequences can be quite severe and cause destruction of the joint or arthritis.
Infections through Blood Products: People suffering from hemophilia need blood transfusions due to which the risk of receiving blood products that are contaminated increases manifold. Although due to growing awareness in the past decade towards the screening of donated blood, the chances of contamination in the blood products have lowered, the possibility of acquiring infection through infected blood still exist. Good news is that most of the reputed hospitals now opt for genetically engineered clotting products for transfusions due to which the risk has reduced considerably.
Negative Reaction: The immune system in some patients of hemophilia reacts negatively to the clotting factors when treatment is prescribed for stopping the bleeding. In such cases, the immune system produced certain type of proteins that act as inhibitors and inactivate the factors responsible for clotting. This reduces the effectiveness of the treatment.
It is difficult to come to a proper decision when it comes to the exact timing for testing the carrier status or factor levels. Some experts advise, test for girl child during childhood, before the girls attain puberty while some health experts are of the opinion that the decision should be left to the woman herself until adulthood. However, certain conditions can instigate early testing for the carrier status or the factor level.
The decision becomes more controversial because about 1/3rd of the babies with hemophilia do not have any family history of this disorder. The doctor can still ask for testing if the baby shows certain indications related to hemophilia such as:
Babies suffering from severe hemophilia start showing serious bleeding symptoms in the first year itself. Hence, their disorder is diagnosed very early. However, in children with mild hemophilia factors, the diagnosis can be made later when the symptoms are really obvious and troublesome.
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Family history related to hemophilia include history of bleeding due to injury or surgery leading to deaths among any of the close family members such as sisters, brothers, male relatives such as grandfathers, maternal uncles or cousins.
In case any such incidence has occurred in the family before, the doctor will ask the parents to carry hemophilia test immediately after the baby boy is born. Sometimes, the doctors may also plan hemophilia testing even before the delivery. In such cases, immediately after the birth of the baby, the doctors draw blood from the umbilical cord to determine the levels of factor-VIII and IX.
This test at the time of the birth finds the low factor levels of VIII in a much better way than IX factor levels as at the factor levels of IX do not develop until the baby is of at least six months. Hence even if the tests of the baby show low IX factor levels it does indicate that the baby is suffering from hemophilia B. The disorder can be confirmed after conducting a repeat test when the baby grows older.
Symptomatic carriers are those females who have mild hemophilia but experience bleeding symptoms and other conditions such as easy bruising, heavy menstrual periods and nosebleeds. Such women should test for hemophilia and must take appropriate treatment before conceiving.
Types of Testing
There are different types of screening tests that are recommended for finding out different conditions related to blood disorders.
These tests are carried out to and to confirm the problem of hemophilia and detect the severity of this bleeding disorder. This test is very important because the mode of treatment is always decided depending upon the severity and type of hemophilia.
Table of Severity and Factor Levels
Severity of Hemophilia | Factor Levels VIII or IX present in the blood |
Severe hemophilia | Lower than 1 percent |
Moderate hemophilia | 1 to 5 percent |
Mild hemophilia | More than 5 percent but less than 50 percent |
Normal person without hemophilia | 50 to 100 percent |
The treatments for hemophilia depend entirely upon the severity of the disorder.
In case of patients suffering from hemophilia A or B, one of the most popular therapies is the clotting factor replacement therapy. This therapy is carried out with two approaches:
This medication is a type of synthetic hormone that encourages the body's internal system to create factor VIII in more amounts. This medication only works on patient with mild hemophilia A and do not have any effect on patients with severe hemophilia A or hemophilia B.
This treatment is recommended by health experts to treat joint bleeds. It is effective in reducing tissue damage, swelling, especially when it is used along with clotting factor concentrates.
These concentrates are used to treat severe and moderate hemophilia and are prepared in two ways:
Plasma-derived clotting factors: This type of factor concentrates is prepared from the plasma present in the donated blood.
Recombinant clotting factors: Different generations of recombinant products exist such as:
This treatment is prescribed so that the prolonged and rapid bleeding process can be stopped effectively and immediately. Doctors or nurses initially inject this medication in the vein-mostly at the elbow crook or back of the hand. After a few sessions, adults can learn to administer the drugs themselves without having to go to the clinic or hospital. In case the patient is a child, the parents or the babysitters can lean to administer the injection.
In case a patient cannot find a suitable vein for administering the injection or if more intensive treatment is needed, external catheter-Hickman line or Broviac or a port-a-cath is placed into the vein surgically so that the clotting factor concentrates can be given regularly and it is easier to draw blood for routine emergency tests. However, it is advisable that such an administration should d be carried out with the help of a reputed caregiver as the catheters can cause complications such as blood blockage and infection.
Episodes of bleeding are regular and simply inevitable for patients suffering from both the types of hemophilia. Even patients with mild hemophilia have to suffer these problems occasionally. Since the bleeding is prolonged rather than rapid, there is no medical emergency but if left untreated the repercussions are far-reaching and damaging.
A person suffering from hemophilia disorder should consult his health expert immediately if:
Although small cuts, grazes, and bleeds in the muscles and joints can be treated at home and do not require any surgical intervention, it is important for a hemophilic patient to consult the doctor as certain wounds can create long term problems.
Note: Patients of hemophilia should always treat their every wound and injury seriously as early treatment can save them from further health complications.
Hemophilia A patients have to face the problem from inhibitors during their treatment. What are inhibitors?
Note: Inhibitors very rarely develop in hemophilia B or in case of mild hemophilia A.
At present, there is no permanent cure for hemophilia. The patients of hemophilia have to keep on taking treatment lifelong. Although scientists are trying hard to come up with a permanent cure, they are yet to make the breakthrough. According to them, the solution can be obtained through gene therapy. How would it work?
Note: Recently the North Carolina University scientists managed to keep the hemophilic condition away from a dog for a month. This is being considered as a major breakthrough and the days are not far when the scientists will come up with similar solution for human beings that are more permanent.
Currently the Indian health care system has come of age and is at the brink of entering the mainstream healthcare process. Even though several active centers for treating and diagnosing hemophilia has been developed, they are still less in number when it comes to the number of hemophilic patients in India. In India, the hemophilia prevalence rate is stipulated to be in the ratio 1:100, 00. At present, only 14,000 patients have been registered with the Hemophilia Federation of India.
Over the years, support groups have contributed hugely in creating awareness about this disorder and in organizing facilities for treatment. Some state governments have even taken significant steps such as providing finance to the anti-hemophilic factors and making available the treatments and the medications free of cost. This has certainly helped improve the quality of life of the hemophilia patients.
Although treatment and diagnosis process has improved in India, certain challenges do exist that confine the Indian clinicians from offering better treatment to the hemophilia patients.
Note; Unavailability of proper treatment can lead to lifelong disability and shortening of lifespan of a hemophilia patient.
Help on the Way
Despite this gloomy scenario, there are certain positive facts that have developed over the years and support better treatment for the hemophilia patients. Here are some of the hemophilia societies and organizations that are working hard to make available proper treatment and facilities to the patients suffering from hemophilia.
Hemophilia Federation of India
SHC India
Different societies of respective states such as Karnataka Hemophilia Society, Madras Chapter of Hemophilia Society, Pune Hemophilia Society are offering all around free help to the hemophilia patients. Thus, although the way is still long, the help is coming from all the quarters and in the coming years India will be able to provide proper treatment and facilities to hemophilia patients.
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