Overview of Hemophilia

Hemophilia (ایک پیدائشی بیماری جِس میں خُون زخم سے بہتا رہتا ہے) is a genetic disorder in which the blood platelets are not working properly. Failure of platelets leads to severe bleeding episodes. This causes continuous bleeding in the affected person.

In the human body, platelets and blood clotting proteins work closely to stop bleeding in case of injury and wounds.

The continuous bleeding is not significant if the cuts are small.  When the bruises are deep and the body is producing low numbers of clotting factors then it is a major medical emergency for hemophilic patients. When the blood does not clot, deep bleeding can occur in the body, especially in the lower body organs. Knees, ankles, and elbows are majorly affected.


Signs and Symptoms of Hemophilia

Depending upon the presence of blood clotting factors the signs can vary. In case of severe deficiency, the person may bleed for hours. But, if the level of clotting factors is significant in the blood. The person may only bleed after a trauma or a crucial blow.

The most common symptoms of hemophilia are:

  • Bleeding in the joints
  • Continuous bleeding after vaccination
  • Blood in the stool 
  • Blood in the urine
  • Nosebleeds that are highly frequent and very hard to stop 
  • Bleeding in the mouth, especially in the gums
  • Deep bruises 
  • Irritability causes severe bleeding in infants 
  • Pain in the joints or swelling 
  • Large bruises

Types of Hemophilia

There are three types of hemophilia based on the absence of clotting factors in the blood. They are known as Hemophilia A, B, and C.

Hemophilia A

Hemophilia A is also known as classic hemophilia. This is a type of hemophilia that is caused due to insignificant levels of factor VIII in the blood. Factor VIII is a clotting factor that is present in the blood. It aids in the healing process. The severity of hemophilia A depends upon the level of production of factor VIII in the body.

People who suffer from Hemophilia A, do not bleed excessively but their clotting factors are unable to stop the bleeding.

Hemophilia B

In this genetic disorder, a person is not able to produce the clotting factor IX. Clotting factors are important because they seal an open wound and stop the bleeding. People who suffer from Hemophilia B do not bleed at a fast pace; they bleed for longer periods.

If a patient has low levels of Factor IX in the blood even a small cut can prove to be fatal.

Hemophilia C

It is the third type of this rare genetic bleeding disorder. When the blood is unable to produce the much-needed amount of blood clotting factor XI. People who undergo surgical procedures may suffer from excessive bleeding due to hemophilia. Further causes of this blood disorder are still unknown.

Causes of Hemophilia

Hemophilia is a disease that is caused due to a mutation in the genes which are responsible for producing the blood clotting factors. Mutation or change in the genes can lead to the poor function of the clotting factors.  This also leads to its complete absence from the blood.

The genes that are responsible for the production of blood clotting factors are located on the X chromosomes.

One X and one Y chromosome are present in males. Females have two X chromosomes in the body. Females tend to inherit one X chromosome from both of their parents. Males get the X chromosome from their mothers and Y from their fathers.

The genetic factor that causes this rare disorder is not located in the Y chromosomes. This is the reason why fathers are not the carriers of this defect. Thus, they cannot transfer this disease to their sons. Those females that have the X chromosome with a defective gene have a 50% chance of passing this disease to their sons.

On the other hand, those males that have altered genes may transfer these to their daughters. Then those females will become carriers. A carrier means that the person is not affected by the disease but can transmit it to their children.

The distribution of the X chromosome is what makes this disease so common in men rather than in females. Those females who get both the altered genes from their parents are highly susceptible to this disease. But this condition is very rare.


Risk Factors of Hemophilia

Due to the genetic factors and the distribution of the X chromosome, Hemophilia A and B are the most common bleeding disorders in males. This is not the same case for hemophilia C. Hemophilia C is the autosomally inherited type of hemophilia. Both males and females are equally prone to this order. The onset of this disease is not related to the transmission of the sex chromosomes.

Health Complications of Hemophilia

The complications of hemophilia mainly depend upon the severity of the disease. Excessive loss of blood can be the reason for serious medical conditions.

  • Temporary to permanent damage to the joints i-e knees, elbows, ankles
  • Muscle damage leads to unbearable pain and can even lead to scarring 
  • Anemia due to the blood loss
  • Damage to the digestive system. This condition leads to blood in the vomit. When the body is suffering from internal bleeding. Vomiting may look like coffee grounds. The patients will feel tiredness and fatigue. 
  • Brain damage mostly happens when there is bleeding inside the head due to blunt force trauma to the head. This is the most complex medical condition because it can be extremely fatal for a person.
  • Compartment Syndrome is a rare complication of hemophilia. When the internal bleeding in the muscles puts pressure on arteries and nerves. This pressure can cause serious damage to the limbs 
  • Hematuria is a condition that is common in people who suffer from hemophilia. This is not dangerous but when the blood clots are deposited in the urethra. Severe pains can happen. Furthermore, urine blockage can also happen.



Hemophilia is a genetic disorder. This is why there is no known preventive measure for this bleeding disorder. But prevention is always better than cure. By adopting certain lifestyle modifications the risk factors of this disease can be avoided. Some of the best preventive tips for hemophilic patients are:

  • Exercise 
  • Avoid blood thinner medication such as aspirin, heparin
  • Take care of your dental hygiene 
  • Injections of clotting factors such as VIII or IX
  • Get tested for other blood diseases such as HIV and Hepatitis


This blood disease can be diagnosed by the following methods:

Test During Pregnancy

If this condition runs in the family, it is better to get tested during the pregnancy period. Nowadays, with advanced technology, it is possible to find out whether the fetus is affected or not.

Blood tests

These are common means of testing if a person suffers from blood clotting factor deficiency or not. Such as

Treatment of Hemophilia | When to Consult a Doctor

The type of hemophilia depends upon different types of clotting factors. One of the most basic types of treatment that a person can get is to receive a replacement of the blood clotting factor. This blood-clotting replacement therapy is administered when an episode of excessive blood loss is happening.

Following are some other therapies that can be given to a patient who is suffering from Hemophilia.

  • Desmopressin

Desmopressin is a hormone that can be injected into the body to increase the production of blood clotting factors. It can also be applied as a nasal spray.

  • Clot-preserving Medications

The main issue that patients face during hemophilia is that their wounds are unable to heal. The clots keep on breaking. These medications can persevere these clot formations from breaking down.

  • Fibrin Sealants

These medications act as a seal to the wounds and block the blood flow. They are applied directly to the sites that have been injured. Fibrin Sealants are mostly useful for dental emergencies.

  • Physical Exercise

In case of internal bleeding, the organs are heavily damaged. Thus physical therapy helps patients to use their swollen joints more conveniently. But if the damage is severe the patient may end up needing a surgical procedure.

  • First Aid

Use a bandage to address a minor cut on the skin. This is one of the primary modes of treatment for hemophilia. Patients can also use ice packs when small areas are bleeding under the skin. Ice pops can be used for oral bleeding that is not that severe.

  • Vaccination

People who are battling hemophilia should get themselves immunized so that they do not contract blood diseases. Furthermore, patients should also get inoculated against hepatitis A and B. This is a preventive step because it lowers the onset of such chronic illnesses.

Note:  (Consult a Hematologist before taking any medications)