Hemophilia is a comparatively rare type of blood disorder where the blood cannot clot. This means, it is difficult to stop bleeding. Bleeding is not more intense than normal but it can be prolonged. The disease may be mild, moderate or acute. It is a genetic disorder where the chromosome is inherited from both the parents. In rare cases, it may develop in a person's lifetime by genetic mutation. It is far more prevalent in males. There is no cure for hemophilia and supportive treatment and care are mostly offered.
Hemophilia is a disorder in which the blood does not clot properly. If you cut yourself, elements known as clotting factors in your blood go to work with small blood cell fragments that are called platelets. These clotting factors are actually a type of protein. They help the platelets to stick together. This sticky mass form the scab to stop the bleeding and then the torn blood vessel is repaired. But, if you have hemophilia, there is a deficiency of these clotting factors in your blood. As a result, the platelets cannot stick together and bleeding cannot stop.
This disease is also known as the Royal disease. This is because it affected several members of the British and Russian Royal families. Leopold, the eighth child of Queen Victoria was born with this disease and two of her daughters were carriers. Through them the disease spread to the royal families of Spain and Russia.
Causes of hemophilia
Hemophilia is a genetic disorder. A person can get this disease if he inherits defective genes from both sets of parents. The genetic mutation which causes the defective genes is linked to the X chromosome. Males have an X and a Y chromosome while females have two sets of X chromosomes. Hence males are far more likely to develop this disease that females. This is because you must inherit the defective genes from both sets of parents. Females generally inherit defective gene from one parent. Hence, they do not experience the disease, but they remain as carriers.
In rare cases, a person may not be born with hemophilia but he develops it later in life due to genetic mutation. A female has 50% chance of passing on the defective gene to her daughter while a male with the defective gene will always pass it on to his daughters. Sons cannot inherit the gene from their fathers. As treatment of hemophilia has advanced, more and more people with this disease survive into adulthood and procreate. Hence, the number of carriers of hemophilia has increased.
There are 3 types of hemophilia. These are as follows
|Type of hemophilia||Causative factor|
|Hemophilia A||There is low level of clotting factor VIII in the blood. This is the most common type of hemophilia.|
|Hemophilia B||There is low level of clotting factor IX in the blood. This is less common.|
|Hemophilia C||This is the rarest type of hemophilia. There are low levels of clotting factor XI in the blood.|
The following table will help to understand the prevalence of the disease:
|Number of people in USA affected with hemophilia||20000|
|Prevalence rate||1 in 13600|
|Annual incidence rate (number of babies born with hemophilia in a year)||400
1 in 5000 male births
|Number of deaths in 1999||1681|
Signs and symptoms of hemophilia
Since there is a deficiency of clotting factor in the blood, the blood cannot clot in time. This leads to prolonged bleeding even from minor cuts. So, abnormal bleeding is the main symptom of the disease. This can be manifested in many different ways:
- External bleeding
- Disproportionately heavy bleeding from cuts.
- Cuts begin to heal; scabs form; and then the bleeding starts again.
- Excessive bleeding from loss of a tooth or cut in the mouth
- Nosebleeds for no apparent reason.
- Internal bleeding
- Easy formation of bruises
- Blood in the urine
- Blood in the stool.
- Bleeding in joints –in severe cases, internal bleeding in joints is not uncommon. The symptoms are as follows:
- Internal bleeding in elbows, knees etc.
- Gradual development of tightness and swelling in the joints. It becomes hot and difficult to bend.
- Continued bleeding causes loss of joint use and swelling increases.
- Bleeding in the brain – this is by far the most serious complication of hemophilia. It can be caused by a mild bump to a head injury. It can be fatal. The symptoms are as follows:
- Long lasting headaches and pain in the neck.
- Repeated episodes of nausea and vomiting
- Sudden weakness or dizziness.
- Difficulty in manipulating the limbs.
- Convulsion or seizures.
Spontaneous bleeding is common in hemophilia. It is difficult to diagnose the disease in early stage. Children are diagnosed when they begin to bruise easily or bleed profusely from childhood accidents or dental procedures.
Treatment for hemophilia
There is no cure for hemophilia. A number of different supportive treatments are suggested.
- The most common treatment is known as replacement therapy.
- In this case, you receive regular infusion of the clotting factor VIII or IX which is missing in your blood.
- This clotting factor is made from human blood. It is treated to prevent cross infection of diseases like hepatitis. It is completely safe and the risks of infections are small. However, in recent years, increase in incidence of HIV has increased the risk.
- The replacement infusion can be done at home at it take 15 minutes on an average.
- If you do not want to take clotting factors from human blood, you can opt for recombinant clotting factors which are made from non human sources.
- Regular infusion is known as prevention therapy. On the other hand, if you get infusion only when the signs of the bleeding become apparent, this is demand therapy. The latter is more expensive. Moreover, by the time the symptoms manifest itself, substantial internal damage may have been caused.
- It is recommended that patients or their parents learn to administer replacement therapy at home as it is safer and less expensive.
- In mild cases, nasal spray or injection of a synthetic hormone called desmopressin is given. This is generally given in special circumstances like before a dental procedure.
- Antifibrinolytic medicines are given in complement with replacement therapy to prevent the blood clots from breaking down.
- The latest development is gene therapy where there is an effort to replace the defective gene. In 2011, a team of American and British researchers reported success with this treatment. However, it is still in an experimental stage.
- Specific exercises are recommended to maintain the health of the joints. They include stretching of calves, flexion of elbows, ankle circles etc. Alternative treatments like self hypnosis are also used to control bleeding in hemophiliacs.