All About Hemophilia That You Should Know

Overview |Who gets affected? | Types | Causes | Symptoms | Risks factors | Complications | Diagnosis | Treatment | Prevention Tips |

What is Hemophilia?

Haemophilia is a rare inherited bleeding disorder in which one blood takes a longer time to clot than the normal ones, due to lack of clotting factors. Haemophilia prevents the blood from clotting. Clotting factors is a protein of 13 different kinds, which help to stop the bleeding by making the blood clot. A person with haemophilia lacks clotting factor 8 and factor 9. The most important thing about this haemophilia is if the person gets injured, then he/she tends to bleed more than the normal individuals and for a longer time as well. Apart from it, haemophilia makes the individual more susceptible to internal bleeding, which can be dangerous for sure. It becomes more fatal if internal bleeding takes place within any vital organs, such as the brain. The internal bleeding can also make the joints swallow when takes place within the joints, with a lot of pain. This rare but severe health disorder can have life-threatening complications.

Although it is an inherited condition, in extremely rare cases, one can develop haemophilia after birth. This occurs when the immune system of such individuals form antibodies that begins to attack clotting factors 8 and 9, this condition is called ‘acquired haemophilia.’ However, in both cases, haemophilia isn’t curable.

The severity of haemophilia depends on the number of clotting factors present in the blood. The lower the amount of factors, the more one becomes likely to bleed more if injured.

Fact: Haemophilia occurs in about 1 of every 5000 males birth.

Who is more likely to have or get affected by Haemophilia?

Most of the patients with haemophilia are middle-aged, elderly people, or young women who have recently delivered their babies or are in the later stage of their pregnancy. Men are considered more likely to get haemophilia than women.

Haemophilia can develop in people from any group, age, and status.

Fact: About 20,000 – 33,000 males in the U.S. are living with this disorder, currently.  

Types of Haemophilia:

There are three prominent types of haemophilia, that is —

  • Haemophilia A – This is the most common type of haemophilia, which occurs due to the deficiency of clotting factor 8. According to National Heart, Lung and Blood Institute (NHLBI), 8 out of 10 patients with haemophilia are affected by haemophilia A-type. And in about 70% of cases of haemophilia A, the condition of the individual is severe. Haemophilia A is also called Classic haemophilia.
  • Haemophilia B – This type of haemophilia occurs due to the deficiency of clotting factor 9 and is also called Christmas disease.
  • Haemophilia C – This type of haemophilia is developed in those individuals who lack clotting factor 11 in their blood. This type is quite rare, but the good thing about this haemophilia C type is, people with this type of haemophilia don’t experience spontaneous or internal bleeding.

Haemophilia A and B are mostly found in men than women, whereas haemophilia C is equally found in men and women.

All three forms range from mild to severe, depending upon the amount of clotting factor present in the blood. The severity according to the range is:

  • 5-40% clotting factor — Mild
  • 1-5% clotting factor — Moderate
  • < 1% clotting factor — Severe

Causes of Haemophilia:

As haemophilia is an inherited disorder, it is caused due to mutation or change in one of the genes of any X chromosome; that provides instructions for the production of blood clotting factors. This change or mutation in the X chromosome’s genes prevents the clotting protein from working properly or be missing altogether.

Males have one X and one Y chromosome, i.e. XY; and females have two X chromosomes only, i.e. XX. Males inherit one X chromosome from their mothers and one Y chromosome from their fathers. Similarly, females inherit two X chromosomes each from their father and mother. The X chromosomes contain several genes that are absent in the Y chromosomes. That means males only have one copy of most of the genes of the X chromosome, whereas females have 2 copies.

If males inherit an X chromosome having mutation with factors 8 and 9, then they inherit haemophilia. Females can also have haemophilia but in rare conditions in which either the X chromosome are mutated or one is mutated while the other is missing. Those females with haemophilia act as a carrier of haemophilia for their children.

Acquired or Haemophilia C are caused due to autoimmune conditions, pregnancy, cancer, or multiple sclerosis.

Although haemophilia is an inherited disease, still about 30 % of cases of haemophilia is not inherited.

Symptoms of Haemophilia:

Symptoms of spontaneous or unreasonable bleeding are —

  • Unexplained and excessive bleeding from cuts, injuries, and surgery.
  • Unusual bleeding after vaccination
  • Pain, swelling, and tightness in your joints
  • Several large and deep bruises
  • Blood in urine or stool
  • Unreasonable noise bleeding
  • Bleeding gums
  • Unexplained irritability in infants

Serious Symptoms:

  • Bleeding within the brain
  • Prolonged and severe headache
  • Sleepiness
  • Behavioral changes
  • Double vision
  • Seizure 
  • Sudden weakness or clumsiness etc.

Risks Factors:

  • Family History
  • Mutated Genetic transmission


  • Joint damage from repetitive bleeding
  • Deep internal bleeding
  • Neurological symptoms from bleeding within the brain
  • Adverse reaction to clotting factor treatment
  • Infection


If any of the parents are affected by haemophilia, then they can test their baby during pregnancy, that the fetus is affected by haemophilia or not. Although, it has some risks. Therefore consultation is a must with your doctor.

A blood test can help both, children and adults to know about the clotting factors deficiency if they have any. Depending on the severity, symptoms will appear in future. As mentioned above, you can check the severity based on the number of clotting factors.

Severe cases of haemophilia are generally diagnosed within a year of birth.


  • Replacement therapy – In this, patients receive the missing or low factors through injection or intravenously. Some patients need regular replacement therapy to prevent bleeding needs This is called prophylactic therapy.
  • Demand therapy – This is opting as a treatment only when one begins to bleed uncontrollably.

Complications of treatment as infection or antibodies development are possible.

Other options are —

  • Desmopressin
  • Rixubis
  • Blood transfusion to get recombinant clotting factors
  • Plasma infusion to treat haemophilia C
  • Physical therapy for joints
  • Fibrin sealants
  • Vaccinations

Prevention tips:

  • Exercise daily
  • Avoid certain pain medications
  • Go for a haemophilia check-up at least annually
  • Avoid blood-thinning medications
  • Maintain a healthy weight and lifestyle
  • Practice good dental hygiene  
  • Avoid chances of bleeding


Similar Articles



Please enter your comment!
Please enter your name here


Most Popular