Haemophilia is a rare genetic disorder that affects the body's ability to clot blood which leads to bleeding. It primarily affects males; females carry and pass on the gene to their children. In this article, we will explore the causes, symptoms, diagnosis, and treatment options for haemophilia.
Haemophilia is caused by a deficiency of clotting factors in the blood, specifically factors VIII (8) or IX (9). These factors help the blood to clot in response to an injury or trauma. Without enough clotting factors, bleeding can be prolonged and excessive.
Haemophilia is an inherited disorder, which means it is passed down from parents to their children through a faulty gene on the X chromosome. Since males have only one X chromosome, if they inherit the faulty gene, they will develop haemophilia. Females can also carry the gene and pass it on to their children, even if they do not show any symptoms of the condition themselves.
Symptoms of haemophilia vary depending on the severity of the condition. Mild cases may only show bleeding after an injury or surgery, while severe cases may show spontaneous bleeding episodes. Common symptoms of haemophilia include:
Diagnosing haemophilia involves a series of blood tests to measure clotting factor levels. If a person has low levels of clotting factors, genetic testing may be conducted to confirm a diagnosis of haemophilia and determine its type and severity. In some cases, prenatal testing may also be done to diagnose foetus with this condition if family history is positive.
The primary treatment for haemophilia is replacement therapy, which involves infusing clotting factors into the bloodstream to promote clotting. This treatment can be administered either on-demand or pro phylactically to prevent bleeding episodes.
In recent years, there has been a shift towards using extended half-life clotting factor products, which can reduce the frequency of infusions needed to maintain factor levels. Other treatment options include desmopressin, which can stimulate the release of clotting factors in mild cases of haemophilia, and antifibrinolytic medications, which can help to prevent blood clots from breaking down. Presently there are non-factor treatments available for haemophilia which modifies disease courses
In addition to medical treatment, people with haemophilia can also take steps to prevent bleeding episodes and maintain good health. These include:
Haemophilia is a rare genetic disorder that can cause prolonged and excessive bleeding. There are very effective treatments available to manage the condition and prevent bleeding episodes. With proper medical care and self-care, people with haemophilia can lead healthy and fulfilling lives.
