All you need to know about Haemophilia


According to the Centers for Disease Control and Prevention, Haemophilia A affects around 5000 male babies every year. Although the exact figures for patients diagnosed with Hemophilia are not known, in 1994 alone it was found that 17000 people were affected by this illness.

Haemophilia is also known as the Royal Disease for its history of affecting generations of Royal Families of Europe from 1837 to 1901. Queen Victoria of England, was diagnosed with haemophilia and passed the mutated gene to the royal families of Russia. Her granddaughter married Tsar Nicholas of Russia and had a son who suffered from this illness as well.

What is Hemophilia?

Haemophilia is the culmination of various bleeding disorders and can co-occur with other diseases known to cause abnormal or excessive blood clotting. Medical scientists commonly classify haemophilia into two major types: Hemophilia A and Hemophilia B which are essentially differentiated on the basis of gene mutation. Although Hemophilia C is also one other classification however its effects on clotting is known to be less severe.

Haemophilia is known to be present in the X-linked recessive genes, therefore, males stand on a higher chance of being diagnosed with this illness. The gene will express itself on the X chromosomes only when the normal genes are not present.

Female babies have rare chances of being diagnosed with haemophilia because only if both the X chromosomes carry the haemophilia genes then the female baby will be diagnosed as haemophilic. However, if only one of the X chromosomes carries the haemophilic genes then she will be the only carrier of the disease but will herself not suffer from haemophilia.

Since in the case of males, only one X chromosome is present so if that gene is defective the male will automatically become haemophilic.

Causes of Hemophilia

The above discussion has augmented one fact about haemophilia that it is caused by genetic mutation. The mutation causes abnormality in the coding for the protein that helps in the clotting process. As a result, the clotting process is disrupted causing excessive bleeding.

Blood clotting process is a complex repairing mechanism which essentially involves 13 different proteins: Factor I through Factor XIII. In case of any damage to the lining of the blood vessels, platelets come into action to aid the repairing process. These platelets release certain chemicals which in turn activate these 13 clotting factors. Consequently, a protein substance with the name of Fibrin is formed that helps in the formation of a mesh which eventually makes up the blood clot.

People suffering from Hemophilia A and B will have the protein factor VIII (8) and protein IX(9) being mutated respectively. As a result of the deficiency of these factors, blood clotting process will be disturbed leading to uncontrolled bleeding in some cases.

On the other hand, Hemophilia C mutates the protein factor XI (11) resulting in mild symptoms. The major characteristic of the C-type, that differentiates it from the other 2 is that it does not solely affect the X chromosomes hence both genders have equal chances of being diagnosed with it.

Even within the major classifications of Hemophilia, A type has a higher probability of being expressive in the person’s body than the B type. According to a research, about 80% of patients with haemophilia were diagnosed with Hemophilia A.

Hemophilia B may become severe if it develops into subgroup Leyden phenotype where the symptoms may become critical in the post-puberty stage.

Signs and Symptoms

The symptoms of Hemophilia will depend upon the mutation of the gene. The amount of bleeding that occurs in the body will be defined by how much factor activity is effected as a result.

The severe form of Haemophilia may initiate at a very early stage and may continue to occur for a very long time. The symptoms usually become more visible within the first two years of the birth period. Bleeding post-circumcision is often considered the primary sign.

In some moderate cases, there may be temporary or occasional bleeding caused by an injury or any other external factor.

The symptoms of Hemophilia may be more responsive in males while on the contrary females may have a wide variability of symptoms and bleeding. There have been reported cases of haemophilia in females where a moderate form of the disease did not result in any sort of bleeding.

it is important to understand that bleeding may initiate in any part of the body though some regions have a higher tendency to be affected more than the others. Following are some of the regions more prone to the risk of haemophilia

  • Bleeding in the Joints: Referred as Hemarthrosis, joints are frequently affected because of haemophilia. Bleeding may result in considerable pain, discomfort and dislocation. Joint replacement surgeries may be recommended to lower the intensity of the pain and relocate the joint.
  • Mouth/Nose Bleeds: Can be diagnosed in children when gums start bleeding significantly during the new teeth formation.  While nosebleeds may occur frequently without any known cause.
  • Bleeding in the brain/skull: Known to be fatal at times, intracranial haemorrhage or bleeding in the brain/skull is one of the most severe symptoms of haemophilia. It is characterized by vomiting, nausea and increased fatigue.

While there may be a whole range of symptoms, patients with haemophilia have often reported blood during the excretion process. Bleeding can occur in gastrointestinal and urinary tract resulting in blood in stool and urine respectively.

Diagnosing Hemophilia

The obvious way of diagnosing haemophilia is to keep a check on its symptoms. However, other factors like family history may increase your chances of being affected with this illness (like in the case of the Royal Family of Europe).

About two-thirds of the hemophilic population is known to have a family history of this condition where the affected gene is passed down a long chain of female carriers.

In cases of a non-family history, blood tests can be conducted to know whether clotting in any part of the body is disrupted during the bleeding process. That way can help to identify the mutated protein factor that may be the cause of the problem. Platelet count and bleeding time test are two out of the series of tests that are recommended for diagnosing this disease.

Treating Hemophilia

Clotting Factor replacement is known to be the most widely used treatment for Hemophilia. For this process, it is important to have a pure clotting factor concentrate which can be obtained from a blood donor or be artificially processed in the laboratory. The concentrate is then infused into the vein.

The biggest advantage of this replacement therapy lies in its ability to be effectively carried out anywhere even at the patient’s home provided that it is done under the supervision of a trained professional.

There may be episodes of this infusion either when needed or on regular basis depending upon how severe the condition is.

On the other hand, the synthetic drug desmopressin can trigger the production of certain chemicals that aid the formation of a platelet plug. Carried out intravenously or through a nasal spray, this synthetic way of treating haemophilia is recommended only to people who have mild symptoms of the condition.


Being classified as a genetic disease, there is no outright way of preventing haemophilia. However, knowing the family history, identifying the possible carrier and having genetic counselling sessions from trained professionals can help reduce the severity of this problem.



Areeba Hussain

Areeba is an independent medical and healthcare writer. For the last three years, she is writing for Tophealthjournal. Her prime areas of interest are diseases, medicine, treatments, and alternative therapies. Twitter @Areeba94789300

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