Hemophilia Definition

Hemophilia is a type of bleeding disorder where there defective blood clot formation due to deficiency in blood clotting factor. The classical symptom of hemophilia is prolonged duration of bleeding due to a defective clot formation (coagulation). Hemophilia is a genetic disease that is almost exclusively seen in males, except for one uncommon type that affects both genders. There is no permanent cure for hemophilia but patients can lead normal life through adequate self care and treatment.

Hemophilia Types

There is an entire cascade of clotting factors that function synergistically to form a blood clot. In this way clotting does not occur prematurely in an otherwise intact blood vessel but can still occur rapidly to seal the ruptured vessel. Hemophilia arises when one or more of these clotting factors are deficient. It classified into three types :

  1. Hemophilia A is the most common and due to factor VIII deficiency
  2. Hemophilia B is due to factor IX deficiency.
  3. Hemophilia C is due to factor XI deficiency.

Hemophilia A and B only occurs in males while hemophilia C may affect both males and females.

Hemophilia Symptoms

The severity of hemophilia symptoms depends upon the degree of deficiency of the clotting factor. In the case of a severe deficiency of a clotting factor, there may be spontaneous bleeding whereas in moderate to minimal deficiency of clotting factors there is slightly prolonged duration of bleeding after surgery or injury.

Symptoms of spontaneous bleeding include :

  • Large areas of bruising.
  • Joint pain and swelling due to internal bleeding may lead to permanent joint damage.
  • Prolonged duration of bleeding from cuts, after surgery, immunization and following tooth extraction.
  • Bleeding from nose (epistaxis).
  • Blood in urine or stool.
  • Bleeding in the muscle leading to numbness due to nerve damage and swelling.
  • Bleeding in the brain leading to confusion, weakness of limbs, double vision, headache and even death.

Sometimes, in cases of severe deficiency of clotting factors. life threatening complications can arise due to internal bleeding.

Hemophilia Causes

Th body responds to bleeding by clot formation which requires participation of platelets and various clotting factors. Patients with hemophilia, referred to as hemophilics, do not bleed more in comparison to normal people but bleed for a longer period of time due to faulty clot formation they.

Hemophilia A and B

Hemophilia A and B are X-linked recessive disorders occur due to deficiency of factor VIII and IX respectively. Sex chromosomes in females are XX (one from father and one from mother) and males possess XY (X from mother and Y from father). The genes of factor VIII and IX, are present only on X chromosomes (X-linked). Therefore males with one defective X chromosome (even if there is a normal Y chromosome) will always be affected. Females with one defective X chromosome but other normal X chromosome will be a carrierĀ  with no signs and symptoms.

A male child cannot inherit the disease from a hemophilic father as the father only contributes the Y chromosome. However, the child has a 50% chance of being affected with a carrier mother with one defective X chromosome)and 100% chance in case of hemophilic mother two defective X chromosomes even if father is not a hemophilic. Female children have 50% chance of being carriers if the mother is carrier and father not, but will be hemophilic only if mother is carrier and father is affected.

Hemophilia C

Hemophilia C is an autosomal disease (non X-linked) and can affect both sexes. Although it is a severe form of hemophilia, it is very uncommon. Hemophilia C is ten times less common than hemophilia A.

Hemophilia Risk Factors

Many drugs and other substances can affect normal blood clotting but this is not hemophilia. Normal blood clotting will return once these drugs and substances are discontinued. Hemophilia is a genetic disorder due to the deficiency of specific clotting factors. The main risk factors for the development of hemophilia includes :

  • Family history
  • Males

Hemophilia Treatment

Although there is no cure for hemophilia, most patients have a normal life with adequate self care and medication. The key to self care is avoiding situations where bleeding may arise, either spontaneously in severe types of hemophilia or with injury in milder cases. Medication and other treatments for the management of hemophilia includes :

  • Hormone desmopressin to increase release of clotting factor.
  • Infusion of fresh frozen plasma which is rich in clotting factors or specific infusion of certain factors like VIII, IX or XI.

Hemophilia in Children

It is often difficult to manage hemophilia in children, especially in severe cases, as they are prone to injuries due to their naturally active lifestyle. It is not just about cuts and open wounds but even minor injuries and strenuous physical activity can lead to internal bleeding. Children need to be educated about their condition and supported to continue living a normal life but being cautious.

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