Is Hemophilia Genetic?

Hemophilia is a disorder in the genes of any individual. To answer is hemophilia genetic, one has to understand the two ways through which the disease can be acquired:

  • Either by inheritance
  • Or by a de novo mutation of the genes.

Is hemophilia genetic and its genetic significance can also be ascertained by its hereditary nature. Humans have 23 pairs of chromosomes. Out of which, one pair of chromosome is responsible for determining the sex of an individual, these are called sex chromosomes. While men have a combination of XY chromosomes, females are XX. Patients suffering from hemophilia have a faulty X- chromosome this can be inherited from either parents or can be the caused due a new mutation.

Is hemophilia genetic is that primary fact about the disease that scientists from the ancient times have always acknowledged. In the 10th century AD, Albucasis, a well renowned Arab physician talks about the men of a particular family which had a tendency to bleed due to minor injuries. This portrays his observation of hemophilia being genetically linked.

Ascertaining is hemophilia genetic in a child can be done as soon as he is born by taking samples of blood from the umbilical cord to check the count of the clotting factor VIII. However, tests for hemophilia B can only be done when the child is six months or older. Post six months, blood sample is checked for factor IX which determines whether the child is suffering from hemophilia B.

Symptoms of hemophilia would include bleeding spontaneously and profusely for a prolonged period of time. Soft tissues and areas with thin fibrin are more prone to such bleeds and allow easy injuries.  Bleeding in joints, followed by an inflammation is another sign of hemophilia. Such internal haemorrhages can lead to permanent deformities. Site of an internal haemorrhage can be anywhere from the urinary tract, to knee joins and intestine. Due to such fatal nature of the disease, a doctor should be immediate consulted as soon as the symptoms are noticed.

Hemophilia has also been called as the Royal Disease. This is because Queen Victoria carried the altered gene of hemophilia B and subsequently two of her daughters inherited it. These daughters, Alice and Beatrice were married into the royal houses of Spain and Russia. This led to widespread hemophilia b in the European royalty and led to the death of many heirs. This association also explains is hemophilia genetic.

Since, hemophilia is a genetic disorder, there is no permanent treatment that can cure it. Temporary treatments that boost the factor levels include replacement therapy and prophylactic therapy. The missing factors are injected into the veins which help in increasing the clotting factor levels.

When the replacement therapy is used to treat a hemophiliac as and when he required the clotting factor, it is referred to as “on- demand” therapy. Under this, the patient only injects the clotting factor in case of an injury or a trauma. Patients who suffer from moderate level of hemophilia undertake this therapy. These clotting factors can be stored easily inside refrigerators at 4 degree Celsius.

When the replacement therapy is used as a preventive measure for hemophilia a treatment, it is termed as prophylactic therapy. In such situations patients suffering from severe hemophilia infuse the clotting factor, even if there has been no instance of bleed. The increase in the clotting factor due to such infusions stops spontaneous bleeds and bleeding into joints in such patients. Hence, this is called a preventive therapy.

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