What is Hemophilia?
Hemophilia (also known as: blood thinners) is an inherited bleeding disorder in which the blood does not clot properly. The lower the level of clotting factors, the more serious the hemophilia, and problems such as bleeding without obvious cause or bleeding following injuries or surgery is more likely.
What is Coagulation?
Coagulation (also known as: blood clotting) is a complex process by which the blood forms clots to block and then heal a wound and stop the bleeding. It is a crucial part of hemostasis - stopping blood loss from damaged blood vessels. In hemostasis a damaged blood vessel wall is plugged by a platelet and a fibrin-containing clot to stop the bleeding, so that the damage can be repaired. People who lack blood clotting factors are more vulnerable to bleeding, with little (or without) coagulation.
Steps of Coagulation (Blood Clotting):
- When the lining of a blood vessel is damaged (by an injury/lesion/wound/cut), the blood vessels get contracted to stop bleeding.
- Small blood cells (called platelets) immediately form a plug at the site of the injury to prevent blood from bleeding out of the injured blood vessel.
- At the same time, proteins in the blood plasma respond in a complex chemical reaction, rather like a waterfall, to form fibrin strands which reinforce the platelet plug. In the mean time, the injured blood vessel begins to rebuild new cells instead of the damaged ones, and the temporary blood clot begins to vanish.
Types of Hemophilia:
Hemophilia is classified into three types, according to the missed clogging factor:
- Hemophilia A: occurs when clotting factor VIII is either absent or not present in sufficient amounts. Since this is the most common type, it is frequently referred to as classic hemophilia.
- Hemophilia B: occurs when clotting factor IX is either absent or not present in sufficient amounts. It is the most common type in the Arab world.
- Hemophilia C: occurs when clotting factor XI is either absent or not present in sufficient amounts. It is extremely rare.
Causes of Hemophilia:
Hemophilia is caused by disorders in the genes responsible for forming clotting factors. Such disorders could be inherited genes, which are transmitted to the offspring causing the onset of hemophilia symptoms. They might be caused, otherwise, by genetic mutations during the formation of the clotting factors in children, regardless of the fact that the parents are not affected by the disease.
Symptoms of Hemophilia:
Bleeding of any organ (internal and external alike); especially muscles and joints. It might occur with or without injury, or after minor surgeries (circumcision, tooth extraction, etc.), or during injection or taking blood samples.
One of the most hazardous types of internal bleeding is the brain bleeding, which is usually followed by fainting and cramps. The level of bleeding varies owing to certain reasons, including the lack of or absence of the clotting factor, the patient's age and activity.
When children begin to crawl and walk, they become very likely to fall frequently, and, accordingly, get injured, especially in their knees.
Fibrosis and dryness of joints: owing to the frequent falling, leading to inflammations following the bleeding stage.
Impairment of muscles: due to the inflammations following bleeding. A few years later, the child becomes disabled. And when reaching the adulthood age, he may have to get his joints changed unless he gets the proper medication on the onset of the disease at an early stage.
Sometimes, when the disease is mild or moderate, the symptoms do not appear until in surgical interventions (tooth extractions, tonsillectomy, etc.).
Diagnosis of hemophilia is carried out on two phases:
- Measuring the clotting factors (VIII and IX) in the blood:
- Healthy people (no hemophilia): 50% – 100%.
- Mild hemophilia: more than 5% and less than 50%.
- Moderate hemophilia: 1% - 5%.
- Severe hemophilia: less than 1%.
- DNA tests:
The clotting Factors VIII and IX could be produced by taking a blood sample, from which the DNA could be extracted so as to examine whether the gene is or isn't fit. This analysis takes three days at least.
Who is Affected?
Hemophilia affects people from all racial and ethnic groups. Most severe forms of hemophilia affect males only. In order for a female to be affected by severe hemophilia, her father must be patient and her mother carrier of the disease; which is very unlikely to happen. Several women, those carrying the disease, might have mild symptoms of the disease. A genetic disease as it is, children are affected by it since birth. Hemophilia A is about four times as common as hemophilia B, and about half of those affected have the severe form.
Treatment:
Treatment of hemophilia varies in accordance with the level of severity:
Mild hemophilia:
The treatment of mild hemophilia involves injecting desmopressin (DDAVP) into the vein to stimulate producing more clotting factors to stop bleeding. Sometimes the Desmopressin drug is given through the nose.
Moderate hemophilia:
Bleeding could be stopped only when pumping the clotting factor of the donor's blood, or genetically modified products. This process may have to be repeated in cases of internal bleeding.
Severe hemophilia:
Severe cases of hemophilia could be treated by pumping plasma to stop frequent bleeding. Venous injection, also, might function as a preventive means against blood thinners. Using this way twice or three times per week might prove effective in avoiding bleeding.
- The doctor is supposed to train the patient and his family on how to take Desmopressin injection or clotting factor at home, work or school.
- Treatment of the bleeding caused by an injury or tooth extraction:
For oral bleeding, it is advisable to use cyclocabron to prevent acute oral bleeding. It is used for only a short period (2-8 days).
In cases of the bleeding caused by injuries, cuts or joint bleeding, the first step is to stop bleeding through primary treatment and first aid, by using a bandage and ice. Following that, it is important to have the clotting factor injected, in order to stop bleeding as fast as possible.
Comprehensive Health Care Centers for Hemophilia Patients:
Given the serious effect of hemophilia on the various aspects of the patient's and his family's live, it has been of crucial importance to provide for them comprehensive health care through specialized centers. They are expected to provide:
- Several healthcare services (body care, mental care, dental care, orthopedic care, and general medical care).
- Enough and reliable information on the social and mental pressures.
- Supporting groups and other services to get the patient familiarized with the disease, and suggest solutions to help him reduce his disorders, most notably the provision of the clotting material and ensuring its availability when in cases of surgeries.
Living with Hemophilia (Non-Clotting / Blood Thinners) and its Complications:
- The best way to avoid joint bleeding is to know, preemptively, when bleeding is likely to occur, and take the clotting factor in due time.
- The joint bleeding treatment should be under the supervision and follow-up of the medical team, by providing the patient with the clotting factor as soon as possible.
- Covering the floor (ceramic, marble, wood, etc.) with carpets and rugs. This is important to reduce the risk of injuries, though it does not protect from the occurrence of injuries altogether.
- Hemophilia might lead to damaging the joints. Patients, therefore, need to see the physiotherapist regularly to improve the health of joints.
- It is of pivotal importance to exercise regularly, after consulting your doctor to determine the appropriate type of exercise.
- Maintaining the integrity of the mouth and teeth, to avoid bleeding or tooth loss.
- Children suffering from hemophilia have to put on a helmet, safety belt and a protecting ligament around the knee to avoid injuries.
- There are certain procedures to be followed by hemophilia patients; namely: rest (R), ice (I), compression (C), and elevation (E). It is generally referred to as the RICE Treatment.
Rest: Avoiding using the affected leg, or keeping the affected arm unmoved helps much in recovery. Continuing to use the affected arm makes muscles and joints susceptible to more bleeding.
Ice: Ice is used to increase the contraction of blood vessels and reduce bleeding; it is referred to as “venous contraction”.
Compression: Using a compression bandage and applying it to the injured joint helps support the joint and reduce bleeding.
Elevation: Elevating the affected arm upwards (above the heart level) reduces the blood flow to the injured area.
When the bleeding stops (as marked by the lessened swelling, pain and temperature of the joint), it is necessary to restore the joint's range of motion, which requires adhering to the exercise prescribed by the physiotherapist, which will help strengthen the muscles surrounding the affected joint, and, therefore, protect the joint from atrophy and dryness, which will, accordingly, reduce the frequency of bleeding.