Signs & Symptoms
Patients with haemophilia usually present with signs of bleeding such as easy bruisability without significant injury, swollen joints/muscles due to bleeding in the joint/muscle after injury. Bleeding can occur even without any noticeable trauma. The most severe (but fortunately rare) types of bleeding are bleeding in the brain and bleeding in the abdomen as these can be life-threatening or cause permanent disability (especially if bleeding in the brain).
Since hemophilia is an inherited genetic disease, it is present even in the foetus! However, bleeding is not usually seen till the child has an injury. We often see boys with severe hemophilia starting to show plenty of bruises when they start to crawl, and bleeding into the knee joints when they start to walk. The milder forms of haemophilia may only present in later childhood or teenager years.
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What causes it
Haemophilia is genetic and lifelong.
This is an X-linked or sex-linked condition. The Haemophilia gene mutation is located on the X-chromosome. Males carry chromosomes XY and females carry chromosomes XX. When the X chromosome of a male patient contains the abnormal Haemophilia gene mutation, he will have haemophilia. However if a female carries the abnormal gene on 1 of her X chromosomes, she is only a carrier and thus will not have the bleeding disorder as the other X chromosome is normal. She may thus pass on this abnormal X chromosome to her son who will then have haemophilia. A "haemophilia carrier" has 50% chance of passing on the haemophilia gene to her son.
The haemophilia patient can suffer from both internal and external bleeding equally. However internal bleeding is more dangerous as it is often recognised later, and internal bleeding is more difficult to treat. External bleeding from minor cuts is discovered immediately and can be stopped by direct pressure and compression so it is easier to treat.
As Haemophilia patients lack an essential clotting factor - either Factor VIII (Haemophilia A) or Factor XI (Haemophilia B), they are more prone to bleeding as their blood does not clot well. Internal bleeding such as joint bleeding, bleeding in the brain or abdomen can occur with even minor trauma due to this severe bleeding disorder. Sometimes these patients have spontaneous internal bleeding ie. bleeding even though the patient cannot recall any preceding trauma.
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About the condition
Haemophilia is an inherited bleeding disorder in which the patient lacks a clotting factor -- Factor VIII in Haemophilia A and Factor IX in Haemophilia B. Patients with haemophilia tend to bleed more easily than normal people as their blood is unable to clot normally.
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Diagnosis and Treatment Options
The treatment is Factor replacement therapy in the form of injections (into the vein) of Factor VIII concentrate (haemophilia A) or Factor IX (Haemophilia B). Therapy can be given in two ways: 1. Prophylactically - to prevent bleeding (when the child is going to have an active day or before strenuous exercise)
"On demand": whenever there is any bleeding. The dose of Factor VIII/IX depends on the weight of the patient as well as the severity of the bleeding. The medicine must be prescribed by a doctor (usually a specialist in blood disorders - haematologist). Parents usually stock up the medicine at home so that they can give the injections immediately whenever the child has any bleeding. This medicine is rather expensive and it has to be stored in the refrigerator.
For haemophilia patients with difficult veins (i.e. very difficult to find veins), they may have to undergo a surgery to insert Port-a-cath - a device that consists of a central venous line (line inserted in a large vein near the heart) connected to a "Port" buried underneath the skin on his chest. This is so that medicines such as Factor VIII concentrate can be injected directly into the "Port" on his chest and into his vein. This is to make it much easier for the patient or family members to give the injections.
Port-a-cath has to be removed and changed if it is blocked or infected. Most patients' Port-a-cath can only last 2-3 years.
When a patient has internal bleeding, the mainstay of treatment is Factor VIII/IX replacement therapy in the form of injections into the vein. If severe internal bleeding such as bleeding in the brain or abdomen occurs, the patient has to go to the hospital immediately as this is an emergency as it may be life-threatening and the patient will be given very high doses of Factor VIII/IX in hospital and may need to be monitored closely in the intensive care unit.
There is no cure for Haemophilia currently. The only possible cure is gene therapy but this is only experimental and so far there is no sustained success after gene therapy. But trials are still ongoing to improve the efficacy and safety of gene therapy, and most hematologists are hopeful that it will be a practical mode of treatment in the not too distant future.
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Post Op Care/Care Tips
Patients with haemophilia are advised not to take part in contact sports and avoid trauma, especially to the abdomen or to the head as internal bleeding can be life-threatening.
The parents and the patients are educated on the symptoms and signs of early bleeding so that they can institute treatment in the form of Factor concentrate injections immediately to stop the bleeding.
They are taught to avoid medicines that can worsen bleeding such as aspirin and warfarin.
However the patients are encouraged to exercise and keep fit - suitable exercises include swimming and non-contact sports such as badminton, table tennis, etc as exercise helps them strengthen their joints and muscles and thus will be less prone to bleeding. Some patients are on "prophylactic replacement therapy" (i.e. they receive regular injections of factor concentrates, usually 2-3 times a week) and they can engage in more vigorous exercises, and live a normal lifestyle.
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