Hemophilia Definition, Reason, Symptoms, Treatment & Prevention
Understanding
Hemophilia is a disorder that causes the body to lack protein needed in the blood clotting process when bleeding occurs.
These proteins are known as clotting or coagulation factors. As a result, bleeding that occurs in people with hemophilia will last longer than normal people.
In addition, there are several types of hemophilia, but the most common are:
- Hemophilia A (classic hemophilia): absence or lack of clotting factor VIII
- Hemophilia B: absence or lack of clotting factor IX
Classified as a rare hereditary disease, we take a closer look at hemophilia below.
| Medical specialist | Internal medicine specialist or blood disease specialist |
| Symptom | Bleeding hard to stop, easy bruising, joint bleeding, spontaneous bleeding for no reason (nosebleeds, bleeding gums, etc.) |
| risk factor | Family history of similar disease, male sex |
| How to diagnose | Medical interview, physical examination, supporting examination |
| Treatment | Alpha octocog drug, alpha nonacog drug |
| Complications | Joint deformity, soft tissue bleeding, serious internal bleeding, infection |
| When to see a doctor? | Easy bruising, bleeding that doesn’t stop, there are symptoms of joint bleeding such as tingling, pain, stiffness, joints getting hot and swollen, there are signs of bleeding in the brain |
Symptom
Symptoms of hemophilia vary, depending on the severity, namely mild, moderate, and severe. However, the main symptom is prolonged bleeding or difficulty stopping.
This condition can occur spontaneously or after a medical procedure.
In addition, the severity of hemophilia is determined by the level of clotting factors in the blood, namely:
- Mild hemophilia, the number of clotting factors in sufferers ranges from 5-50 percent
- Moderate hemophilia, sufferers have a clotting factor of 1 -5 percent.
- Severe hemophilia, the number of clotting factors is less than 1 percent
It should be noted that most of the existing cases of hemophilia are in the severe category.
Mild Hemophilia
Children born with mild hemophilia may not show symptoms for years.
This condition is usually only seen after the patient has received a serious injury, or has undergone a medical procedure, such as having a tooth extracted.
This situation can make bleeding difficult to stop.
Moderate Hemophilia
People with moderate-grade hemophilia bruise easily and are prone to joint bleeding, especially if they are bumped or dropped.
Early symptoms of moderate hemophilia are usually tingling and mild pain in the affected joint area.
The most commonly affected joints are the knees, ankles and elbows; but can also affect the shoulder, wrist, and hip joint.
If not treated immediately, sufferers can feel extreme pain in the joints, stiffness, and the bleeding area will feel hot, swollen and tender.
Severe Hemophilia
The characteristics of severe hemophilia are similar to moderate hemophilia. The difference is in the frequency and severity of joint bleeding.
Someone with severe hemophilia will get spontaneous bleeding for no apparent reason.
For example, in the form of nosebleeds, bleeding gums, joint bleeding, and muscle bleeding.
Reason
The blood clotting process involves a series of complex mechanisms, namely platelets and 13 proteins or clotting factors whose names are Roman letters.
In the case of hemophilia, there is a gene mutation that makes the body do not have enough of certain clotting factors.
There are two types of hemophilia that are distinguished by a lack of a type of clotting agent, namely hemophilia A (caused by a lack of clotting agent VIII (8) in the blood) and hemophilia B (caused by a lack of clotting agent IX (9) in the blood).
Meanwhile, the chromosome itself is a DNA strand that functions as a repository for the genetic material of life.
Every human being has a pair of sex chromosomes where the composition for women is XX and for men is XY.
Well, the cause of hemophilia is a genetic mutation on the inherited X chromosome.
Thus, generally people with hemophilia are men, while women tend to be carriers of the gene mutation.
risk factor
The highest risk factor for someone with hemophilia is having a family member with a similar condition.
In addition, men with hemophilia are more common than women.
Diagnosis
The doctor will conduct a medical interview to find out the patient’s complaints and about the patient’s and family’s medical history.
The doctor will also do a thorough physical examination. For example, checking for bruises and whether there are other signs of bleeding in the body, such as gums and joints.
The doctor can also carry out supporting examinations to confirm the diagnosis, such as blood tests and genetic tests.
Treatment
Hemophilia treatment depends on the severity of the disease. There are two methods of treating hemophilia, namely:
Treatment to prevent bleeding
Most cases of hemophilia are severe cases requiring preventive (prophylactic) treatment.
Usually, it will be given routinely in the form of clotting factor injections.
Preventive treatment usually continues until the patient enters adulthood.
After that, it is possible that the method of treatment will change to treatment when bleeding occurs ( on demand ). However, it is possible that the method will change back if needed.
Hemophilia A Preventive Medicine
- Preventive treatment for people with hemophilia A is an injection of the drug octocog alpha, namely clotting factor VIII (8), which is given every 48 hours.
Side effects that may arise are itching in the injected skin area, a red rash appearing, and feeling sick.
Hemophilia B Preventive Medicine
- Hemophilia B sufferers will be given an injection of the drug nonacog alpha, namely clotting factor IX (9) which is given routinely twice a week.
Side effects of this drug include headache, nausea, discomfort and swelling in the area where the drug was injected.
Treatment When Bleeding Occurs ( On Demand )
- Patients with mild or moderate hemophilia will generally be given treatment as a reaction to the bleeding that occurs.
Treatment of On-Demand Hemophilia A
- Generally, people with hemophilia A will be given an injection containing octocog alpha or a drug called desmopressin.
This synthetic hormone stimulates the production of clotting factor VIII (8) and is given as an injection.
Possible side effects are headache, stomach pain, and nausea.
Hemophilia B On-Demand Treatment
- Hemophilia B sufferers are usually given an injection containing Monaco alpha.
Prevention
Because it is an inherited disease, hemophilia cannot be prevented.
However, with proper treatment, people with hemophilia can lead normal lives.
There are several tips that sufferers can do to minimize the appearance of symptoms, including:
- Avoid activities that have the potential to involve physical contact with other people, such as martial arts
- Take care of oral health to avoid tooth and gum disease which can cause bleeding
- Do not carelessly take drugs. Some types of drugs, for example ibuprofen, have side effects on the performance of blood clots when bleeding occurs
Complications
Without proper treatment, severe hemophilia can cause:
- A deformity of the joint which will then require a surgical procedure
- Soft tissue bleeding which can lead to complications
- Internal bleeding (bleeding in the body) is serious
- Infection
In addition, people with moderate and severe hemophilia must be aware of the occurrence of intracranial bleeding, namely bleeding that occurs inside the skull.
Generally, this happens because the patient has a head injury. Symptoms of intracranial bleeding include:
- Stiff neck
- Vomit
- Looks dazed
- Speech difficulties
- Double vision
- Paralysis of some or all of the facial muscles.
If this happens, immediately rush to the hospital for treatment.
When to See a Doctor?
If you experience the following conditions, immediately seek medical help:
- Easy bruising and bleeding that doesn’t stop
- There are symptoms of joint bleeding such as tingling, pain, stiffness, hot joints, and swelling
- Have a family history of hemophilia and are pregnant or planning to have children
- Signs or symptoms of bleeding in the brain