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Haemophilia: Treatment, symptoms, advice and help

About haemophilia

Haemophilia is an uncommon, genetic disorder characterised by disruption in the blood clotting process which subsequently results in increased bleeding time. It occurs due to an inherited deficiency of certain clotting factors which are proteinaceous material responsible for clotting mechanism. Clotting is a mechanism wherein the injured blood vessel gets plugged to prevent further blood loss.

Haemophilia: Incidence, age and sex

Haemophilia is a disorder which is not commonly encountered in the general population. It is exclusively seen in men. A woman may be afflicted with haemophilia in rare circumstances when the father is a haemophiliac and mother a haemophiliac carrier.

Signs and symptoms of haemophilia: Diagnosis

The most prominent feature of haemophilia is bleeding in various organs of the body, especially the joints and the muscles. This may result in joint pain and swelling. Knee, elbow and ankle joints are most frequently affected. Other features include presence of bruises, all over body or increased bleeding even during a minor injury. Some individuals may experience painless haematuria or haematemesis. The typical signs and symptoms of haemophilia are manifested outright in childhood.

A detailed history and physical examination by a specialist is advisable. The diagnosis may be established by a blood test including estimation of clotting and bleeding time. Moreover, genetic testing may be considered in individuals where diagnosis is in doubt.

Causes and prevention of haemophilia

Haemophilia is an X-linked genetic disorder exclusively seen in men. It results from a defect in gene located on the X-chromosome, and is responsible for synthesis of a specific clotting factor. Absence of any of the clotting factor leads to disruption in the chain of clotting event, resulting in increased bleeding time. Haemophilia is of two types namely ‘Haemophilia A’ which is the commoner of the two. Haemophilia A also called ‘Classic Haemophilia’ is characterized by deficiency of clotting factor 8. The other kind of haemophilia known as ‘Haemophilia B’ is rare and characterized by deficiency of clotting factor 9.

Haemophilia: Complications

Haemophilia can lead to several complications like anaemia which occurs due to long-standing blood loss. Massive blood loss may result in hypovolemic shock which is a medical emergency. Persistent bleeding into the joints can lead to the permanent damage. Sometimes bleeding in the muscles may cause blood to pool in soft tissues which may subsequently compress adjoining nerves or blood vessels resulting in severe consequences.

Haemophilia: Treatment

Haemophilia is a lifelong disease which has no cure. The treatment modality includes replacement of the deficient clotting factor by the intravenous route. Mild cases of haemophilia may need such infusion as and when needed. Alternatively, severe cases of haemophilia may require infusion of clotting factor at regular intervals. Occasionally medications like desmopressin or antifibrinolytics have shown some benefit in mild cases of haemophilia. It is important to educate the affected individual about the disease so that he/she is able to identify danger signs and get medical help, when needed.