Hemophilia | ھیموفیلیا

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Hemophilia is a genetically inherited disorder in which the blood does not contain specific proteins called clotting factors. Clotting factors work together with platelets and other proteins present in the blood to form the clots and stop bleeding from injuries and bruises. In their absence, the patient’s blood does not clot normally to control bleeding, which may result in excessive bleeding for longer period of time.

Inherited hemophilia could be of two main types:

  • Hemophilia A - occurs when the patient is missing or lacking the clotting blood-1813410_640 (2)factor VIII (8).
    Hemophilia A is the most common type of hemophilia.
  • Hemophilia B - occurs when there are low or missing levels of clotting factor IX (9).

In a very rare instance, hemophilia can also be caused due to factors that are not inherited. In that case, the patient produces antibodies, which by-mistake attack and damage its own clotting factors. This is referred as acquired hemophilia and considered as auto-immune reaction.

This leaflet focuses on Hemophilia A and Hemophilia B.

Blood clotting is a natural mechanism, however excessive clotting of blood could be dangerous for health as it may cause heart disease and stroke. Adequate quantity of clotting factors (factor VIII and IX) along with platelets and other blood proteins are essential to maintain the critical balance of blood clotting function.

Hemophilia is mostly inherited and affects males. Females are usually carrier of the defected gene, who can pass the gene to their children.

Since Hemophilia is mainly a genetically acquired disorder, signs and symptoms of the disease are mostly observed in early childhood. In the baby boys who are circumcised, prolonged bleeding after circumcision may be the first sign of hemophilia, while the diagnosis in the boys, who aren’t circumcised, is made on easy bruising of the child when they are able to move around. Children usually experience minor bleeding by age 2 years due to minor bruises.

The bleeding due to hemophilia, could be external (due to open injury) or internal (bleeding occurs inside the body). Usually, small cuts on the skin are not of much of a problem but internal bleeding, especially in the knees, ankles and the elbows are of great concern and may be life-threatening, if not treated on time.

Sign and symptoms of hemophilia vary depending on the amount of clotting factors present in the blood.

Mild Hemophilia - Occurs in patients who produce 5 – 50% of normal amount of clotting factors in their blood. Symptoms are usually not noticeable from minor cut or injury while disease is diagnosed when these patients have profuse bleeding due to serious open injury, dental procedure or a surgery.

Moderate Hemophilia – happens when patients produce 1 – 5% of normal amount of clotting factor. Patients bleed or bruise frequently and may experience bleeding in joints.

Severe Hemophilia – Patient produce less than 1% of the normal amount of clotting factors. Severe hemophilia patients may start bleeding spontaneously even after a minor injury. Joint pain due to internal bleeding can occur

Indications of External Bleeding

• Nosebleed without known reason

• Bleeding from gums or mouth due a minor cut

• Considerable bleeding from minor cuts or injury

• Sometimes bleeding restarts after stopping for a short time

Indications of Internal Bleeding

• Hematuria (blood in urine) – bleeding may be from kidney

• Blood in stool (bleeding in the stomach and intestine)

• Inflammation or swelling in joints – (bleeding in joints)

• Bleeding in head (may be due to injury)

Hemophilia is a genetic disorder, which means defected genes are passed on to the children from parents.


The gene that has the code to make the clotting factor is present on chromosome X. Male body cells have ONE X and ONE Y chromosome while the female body cells have TWO X chromosomes. This is the reason why males, having the defected gene, almost always present with the disease while females cells, even if they have defected gene on one X chromosome, the gene on the other X chromosome produces the required clotting factor overcoming the defect. The females usually never present with the disease, until unless both X chromosomes have defected gene, and are therefore the silent carriers.

The male child (XY) always gets his X chromosome from the mother and so the carrier females might transfer the defected X chromosomes to their sons and that is the reason why usually only a male child presents with Hemophilia.

Other, very rare, risk factors for acquiring hemophilia could be a defected defense mechanism of the body which is not able to identify the clotting factors as the part of their own body and start reacting against them, destroying them and making them inadequate in the body.

In very rare cases, parents do not carry defective gene but children develop hemophilia due to mutation (changes) in their genes.

Diagnosis of hemophilia is made on medical history, signs & symptoms and lab screening tests

• Complete Blood Picture

• Clotting Factor Test

• PT and INR Test

• PTT Test

• Fibrinogen Test

The average age at which hemophilia is diagnosed is 9 months. Usually all hereditary cases are almost always diagnosed by 2 years of age.

The severity of the hemophilia is also determined with these tests depending on the percentage of clotting factors present. 5-40% clotting factor being mild, 1-5% being moderate and less than 1% classified as severe. Mild hemophilia might not show up at early age and could not be diagnosed until the person go for a surgery and bleed excessively.

It is also possible to screen the fetus during pregnancy of the person with family history of hemophilia but this possesses some risk to the baby.

There is no known cure of Hemophilia and the affected individual will have to take life-long infusions of clotting factors that ensure good quality of life.

For mild hemophiliacs, injections are usually require when patient have uncontrolled bleeding due to an open injury, whereas severe hemophiliacs may require regular injections.

In the past treatment of hemophiliacs were done with transfusion of factor VIII (8) obtained from the donated blood, which has more risk of transmitting blood-borne infections e.g. Hepatitis B & C and HIV. But in the last few years, newer and better clotting factors are available, which are uncontaminated and replacement therapies are much safer now.

Apart from replacement therapy, some other drugs like hormones to increase the release of clotting factors, clot preserving medications and sealants to be applied on the site of the injury can also be prescribed to stop the bleed.

Complications of hemophilia may include:

  • Profuse deep internal bleeding and damaged joints – bleeding in the muscles and joints may build up as swelling and press the nerve and blood vessels causing numbness, muscle stiffness and severe pain.
  • Predisposed to infections – patient gets multiple transfusions and are predisposed to blood-borne infections like HIV and Hepatitis. Though, with the introduction of genetically modified synthetic clotting factors, this risk has greatly reduced.
  • Reaction to the treatment – In very few cases, patient’s immune system reacts to the synthetic clotting factors resulting the treatment less effective.

Patient with hemophilia can live a healthy if treated properly. Few steps can be followed to avoid any complications

• Follow the treatment plan correctly and accurately

• Regular visit to the family doctor and hematologist for checkups

• Make sure to receive all recommended vaccinations

• Inform other health care providers – dentist, doctor and pharmacist about the patient’s hemophilia condition

• Know and identify the exact danger signs and symptoms and when to show up to the doctor or the emergency room

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